ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs)

dbSNP: rs1553168601
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604071 SCV000713316 likely pathogenic Rare genetic deafness 2017-06-09 criteria provided, single submitter clinical testing The p.Val558ThrfsX3 (NM_004700.3 c.1671_1672insACGAC) variant in KCNQ4 has not b een previously reported in individuals with hearing loss and is absent from larg e population studies. This variant is predicted to cause a frameshift, which alt ers the protein?s amino acid sequence beginning at position 558 and leads to a p remature termination codon 3 amino acids downstream. This alteration is then pre dicted to lead to a truncated or absent protein. Heterozygous loss of function o f the KCNQ4 gene is an established disease mechanism in hearing loss. In summary , although additional studies are required to fully establish its clinical signi ficance, the p.Val558ThrfsX3 variant is likely pathogenic.

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