ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1469G>A (p.Arg490His)

dbSNP: rs587776360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000144090 SCV000189164 uncertain significance Autosomal recessive nonsyndromic hearing loss 31 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001315199 SCV001505763 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 156029). This variant has not been reported in the literature in individuals affected with WHRN-related conditions. This variant is present in population databases (rs587776360, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 490 of the WHRN protein (p.Arg490His).

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