ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1573G>A (p.Asp525Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388756 SCV004100526 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A criteria provided, single submitter clinical testing The missense variant p.D525N in KCNQ4 (NM_004700.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge.The missense variant c.1573G>A (p.D525N) in KCNQ4 (NM_004700.4) is observed in 1/30616 (0.0033%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state.The p.D525N missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.1573 in KCNQ4 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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