ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1479A>T (p.Gln493His)

dbSNP: rs375029767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808507 SCV000948617 uncertain significance Familial cancer of breast 2022-02-18 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. 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. ClinVar contains an entry for this variant (Variation ID: 652855). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 493 of the BARD1 protein (p.Gln493His).
Ambry Genetics RCV002390619 SCV002700374 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-10 criteria provided, single submitter clinical testing The p.Q493H variant (also known as c.1479A>T), located in coding exon 6 of the BARD1 gene, results from an A to T substitution at nucleotide position 1479. The glutamine at codon 493 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002508260 SCV002817968 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18480049)
Baylor Genetics RCV000808507 SCV005054616 uncertain significance Familial cancer of breast 2024-01-19 criteria provided, single submitter clinical testing

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