ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.3544A>C (p.Lys1182Gln)

gnomAD frequency: 0.00007  dbSNP: rs763027953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939165 SCV002207144 uncertain significance not provided 2023-09-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1429912). This variant is present in population databases (rs763027953, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1182 of the ERBB2 protein (p.Lys1182Gln).
Breakthrough Genomics, Breakthrough Genomics RCV001939165 SCV005192839 uncertain significance not provided criteria provided, single submitter not provided

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