ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1807G>A (p.Gly603Ser)

gnomAD frequency: 0.00004  dbSNP: rs771145294
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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 RCV001926913 SCV002198849 uncertain significance not provided 2021-09-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 603 of the ERBB2 protein (p.Gly603Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs771145294, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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