ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8851G>C (p.Val2951Leu) (rs1555151205)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588863 SCV000694385 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing Variant summary: The ATM c.8851G>C (p.Val2951Leu) variant involves the alteration of the first conserved nucleotide of exon 62. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). 5/5 splice prediction tools via Alamut predict the weakening of a canonical splice acceptor site, however, these predictions have yet to be confirmed by functional studies. This variant was not found in 119296 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; 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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