ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.3382G>A (p.Val1128Ile)

gnomAD frequency: 0.00005  dbSNP: rs747888253
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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 RCV001983714 SCV002280268 uncertain significance not provided 2024-09-23 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 1128 of the ERBB2 protein (p.Val1128Ile). This variant is present in population databases (rs747888253, gnomAD 0.008%). This missense change has been observed in individual(s) with lung cancer (PMID: 30610926). ClinVar contains an entry for this variant (Variation ID: 1490388). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". 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.
Breakthrough Genomics, Breakthrough Genomics RCV001983714 SCV005192838 uncertain significance not provided criteria provided, single submitter not provided

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