ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.594G>A (p.Met198Ile)

gnomAD frequency: 0.00001  dbSNP: rs767673890
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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 RCV002646583 SCV002973941 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 198 of the ERBB2 protein (p.Met198Ile). This variant is present in population databases (rs767673890, gnomAD 0.03%). 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 variant has not been reported in the literature in individuals affected with ERBB2-related conditions.

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