ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) (rs727505188)

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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 RCV000156678 SCV000206399 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing Arg778Gln in exon 10 of DFNB31: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, bushbaby, guinea pig, chinchilla, and brush-tailed rat have a glutamine (Gl n) at this position despite high nearby amino acid conservation. In addition, co mputational prediction tools do not suggest a high likelihood of impact to the p rotein.
Invitae RCV001326126 SCV001517140 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 778 of the WHRN protein (p.Arg778Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WHRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 179878). 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 glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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