ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.703G>A (p.Ala235Thr)

dbSNP: rs76379269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193633 SCV001362601 uncertain significance not specified 2019-01-25 criteria provided, single submitter clinical testing Variant summary: ATM c.703G>A (p.Ala235Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 245814 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.703G>A in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Baylor Genetics RCV003469309 SCV004209538 uncertain significance Familial cancer of breast 2023-08-29 criteria provided, single submitter clinical testing

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