Variant Info


Gene: KCNQ1

pLI: 2.45e-05

Haploinsufficiency: 3

Transcript: NM_181798.1

Exon: 13-16/16

Intron: 12-15/15

PVS1 Flowchart

Preliminary Decision Path: DEL10
  • Deletion (single exon to full gene)
    • Single to multi exon deletion
      Preserves reading frame
      • Role of region in protein
        function is unknown #1
        • LoF variants in this exon are not frequent
          in the general population #2 and exon is
          present in biologically-relevant transcript(s)
          • Variant removes >10% of protein
            • Strong
#1 Neither mutational hotspot nor functional domain is found.
#2 Maximum LOF population frequency in exon 15 of NM_000218.2 is 8.80e-06, lower than the threshold (0.1%) we pre-defined.

Disease Mechanism

Gene Disease Clinical Validity Disease Mechanism Consideration Adjusted Strength
KCNQ1 Jervell and Lange-Nielsen syndrome Definitive No Decrease Strong
KCNQ1 hypertrophic cardiomyopathy No Reported Evidence Not applicable Unmet