ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1556A>G (p.His519Arg)

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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 RCV003006358 SCV003312043 uncertain significance not provided 2022-02-13 criteria provided, single submitter clinical testing 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. 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 variant has not been reported in the literature in individuals affected with ERBB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 519 of the ERBB2 protein (p.His519Arg).
Fulgent Genetics, Fulgent Genetics RCV005019561 SCV005646003 uncertain significance Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive 2024-04-22 criteria provided, single submitter clinical testing

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