ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1341A>T (p.Ser447=)

gnomAD frequency: 0.00001  dbSNP: rs762323327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465891 SCV000558610 likely benign not provided 2016-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010950 SCV001171216 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-17 criteria provided, single submitter clinical testing The c.1341A>T variant (also known as p.S447S), located in coding exon 12 of the MRE11A gene, results from an A to T substitution at nucleotide position 1341. This nucleotide substitution does not change the at codon 447. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001496596 SCV001701296 likely benign Ataxia-telangiectasia-like disorder 2020-11-13 criteria provided, single submitter clinical testing

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