ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.5G>A (p.Gly2Asp)

dbSNP: rs763716638
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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 RCV000557200 SCV000651761 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-09-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 2 of the RAD51D protein (p.Gly2Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 472614). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000561326 SCV000671953 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-24 criteria provided, single submitter clinical testing The p.G2D variant (also known as c.5G>A), located in coding exon 1 of the RAD51D gene, results from a G to A substitution at nucleotide position 5. The glycine at codon 2 is replaced by aspartic acid, an amino acid with 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000557200 SCV003807425 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-07-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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