ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1270G>A (p.Val424Ile)

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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 RCV003088603 SCV003485645 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 424 of the ERBB2 protein (p.Val424Ile). This variant is present in population databases (rs142783371, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV005021571 SCV005645995 uncertain significance Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive 2024-06-13 criteria provided, single submitter clinical testing

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