ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) (rs727504459)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155447 SCV000205138 uncertain significance not specified 2013-09-12 criteria provided, single submitter clinical testing The Gly277Arg variant in KCNQ4 has not been reported in individuals affected wit h hearing loss or in large population studies. Computational analyses (biochemic al amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gly277Arg variant may impact the protein. In addition, this variant occ urs in the conserved pore forming region (P-loop) of the KCNQ4 protein, and s everal variants in this region have been reported as disease causing. However, w ith functional studies, this information is not enough to assume pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant.
Fulgent Genetics,Fulgent Genetics RCV000763910 SCV000894851 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2018-10-31 criteria provided, single submitter clinical testing

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