ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.951T>G (p.Asp317Glu) (rs876659199)

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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 RCV000213497 SCV000275384 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779776 SCV000916566 uncertain significance not specified 2017-12-15 criteria provided, single submitter clinical testing Variant summary: The ATM c.951T>G (p.Asp317Glu) variant involves the alteration of a non-conserved nucleotide that is not located within a known functional domain (InterPro). 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 245844 control chromosomes. One clinical diagnostic laboratory classified this variant as one of 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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