ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.576G>A (p.Gln192=)

dbSNP: rs2091602856
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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 RCV001302876 SCV001492101 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-10-18 criteria provided, single submitter clinical testing This sequence change affects codon 192 of the RAD51D mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RAD51D protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon. 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: 1005922). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV004764799 SCV005374696 uncertain significance Hereditary breast ovarian cancer syndrome 2024-07-08 criteria provided, single submitter curation According to the ACMG SVI adaptation criteria we chose this criterion: PM2 (supporting pathogenic): not in gnomAD

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