ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1840G>A (p.Val614Ile)

dbSNP: rs760541768
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013363 SCV001173942 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-05 criteria provided, single submitter clinical testing The p.V614I variant (also known as c.1840G>A), located in coding exon 9 of the BARD1 gene, results from a G to A substitution at nucleotide position 1840. The valine at codon 614 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307654 SCV002600743 uncertain significance not specified 2022-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549388 SCV003308149 uncertain significance Familial cancer of breast 2023-05-02 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 820168). 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 valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 614 of the BARD1 protein (p.Val614Ile).
Baylor Genetics RCV002549388 SCV004217261 uncertain significance Familial cancer of breast 2023-05-30 criteria provided, single submitter clinical testing

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