ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1607G>A (p.Arg536Gln)

gnomAD frequency: 0.00008  dbSNP: rs140980495
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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 RCV001358075 SCV001559535 uncertain significance not provided 2024-05-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 536 of the ERBB2 protein (p.Arg536Gln). This variant is present in population databases (rs140980495, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1050529). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ERBB2 protein function. 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358075 SCV001553723 uncertain significance not provided no assertion criteria provided clinical testing

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