ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1409A>G (p.His470Arg)

gnomAD frequency: 0.00002  dbSNP: rs201097345
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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 RCV001981931 SCV002212515 uncertain significance not provided 2023-07-07 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. This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 470 of the ERBB2 protein (p.His470Arg). This variant is present in population databases (rs201097345, gnomAD 0.03%). 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: 1432121). 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.
Fulgent Genetics, Fulgent Genetics RCV005016877 SCV005645997 uncertain significance Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive 2024-03-13 criteria provided, single submitter clinical testing

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