ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4878T>C (p.Asp1626=) (rs755687834)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755832 SCV000883422 likely benign not provided 2018-06-13 criteria provided, single submitter clinical testing The ATM c.4878T>C; p.Asp1626Asp variant (rs755687834), to our knowledge, is not reported in the medical literature but is reported as likely benign in ClinVar (Variation ID: 187337). This variant is found in the general Latino population with an allele frequency of 0.01% (4/33576 alleles), in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, this variant is considered to be likely benign.
Ambry Genetics RCV000167056 SCV000217883 likely benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000601796 SCV000728659 likely benign not specified 2017-09-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000527773 SCV000622538 likely benign Ataxia-telangiectasia syndrome 2018-01-04 criteria provided, single submitter clinical testing

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