ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1844A>G (p.Gln615Arg)

gnomAD frequency: 0.00001  dbSNP: rs764418221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549991 SCV000632988 uncertain significance Familial cancer of breast 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 615 of the BARD1 protein (p.Gln615Arg). This variant is present in population databases (rs764418221, gnomAD 0.01%). This missense change has been observed in individual(s) with BARD1-related conditions (PMID: 36243179). ClinVar contains an entry for this variant (Variation ID: 460725). 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.
Ambry Genetics RCV000566349 SCV000665719 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-12 criteria provided, single submitter clinical testing The p.Q615R variant (also known as c.1844A>G), located in coding exon 9 of the BARD1 gene, results from an A to G substitution at nucleotide position 1844. The glutamine at codon 615 is replaced by arginine, 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.
Baylor Genetics RCV000549991 SCV004217205 uncertain significance Familial cancer of breast 2023-08-06 criteria provided, single submitter clinical testing

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