ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1772A>T (p.Lys591Met)

gnomAD frequency: 0.00001  dbSNP: rs767216520
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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 RCV001225993 SCV001398288 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 953664). This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. This variant is present in population databases (rs767216520, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 591 of the ERBB2 protein (p.Lys591Met). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Fulgent Genetics, Fulgent Genetics RCV005014262 SCV005646004 uncertain significance Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive 2024-01-10 criteria provided, single submitter clinical testing

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