ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1385G>A (p.Gly462Asp)

dbSNP: rs373192991
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246618 SCV001419989 uncertain significance not provided 2019-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 462 of the ERBB2 protein (p.Gly462Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs373192991, ExAC 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ERBB2-related conditions.

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