ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.74T>C (p.Val25Ala)

gnomAD frequency: 0.00004  dbSNP: rs755921683
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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 RCV002019717 SCV002282406 uncertain significance not provided 2023-11-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 25 of the ERBB2 protein (p.Val25Ala). This variant is present in population databases (rs755921683, 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: 1497000). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Fulgent Genetics, Fulgent Genetics RCV005017041 SCV005645981 uncertain significance Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive 2024-01-25 criteria provided, single submitter clinical testing

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