ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.80C>T (p.Thr27Ile)

dbSNP: rs139642328
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571331 SCV000663811 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-05 criteria provided, single submitter clinical testing The p.T27I variant (also known as c.80C>T), located in coding exon 1 of the RAD51D gene, results from a C to T substitution at nucleotide position 80. The threonine at codon 27 is replaced by isoleucine, an amino acid with similar properties. This alteration was detected in 1/5589 German BRCA1/2-negative probands with breast cancer (Hauke J et al. Cancer Med, 2018 04;7:1349-1358). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000571331 SCV000686490 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000649675 SCV000771506 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 27 of the RAD51D protein (p.Thr27Ile). 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: 480524). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Mendelics RCV000709458 SCV000839202 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV003148790 SCV003837406 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21111057)
Baylor Genetics RCV000649675 SCV004200380 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-08-22 criteria provided, single submitter clinical testing

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