ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.370A>T (p.Asn124Tyr)

dbSNP: rs1283546661
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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 RCV001979008 SCV002221647 uncertain significance not provided 2021-07-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces asparagine with tyrosine at codon 124 of the ERBB2 protein (p.Asn124Tyr). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ERBB2-related conditions.

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