ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.359T>G (p.Met120Arg)

dbSNP: rs876660691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213666 SCV000278324 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-14 criteria provided, single submitter clinical testing The p.M120R variant (also known as c.359T>G), located in coding exon 5 of the RAD51D gene, results from a T to G substitution at nucleotide position 359. The methionine at codon 120 is replaced by arginine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 53000 alleles tested) in our clinical cohort. This amino acid position is poorly 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 p.M120R remains unclear.

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