ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.238C>T (p.Pro80Ser) (rs750597831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222655 SCV000277167 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590630 SCV000694220 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing Variant summary: The ATM c.238C>T (p.Pro80Ser) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 2/114158 control chromosomes at a frequency of 0.0000175, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). In addition, one clinical diagnostic laboratory classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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