ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.79G>T (p.Val27Phe)

dbSNP: rs754770960
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001027037 SCV001189535 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-20 criteria provided, single submitter clinical testing The p.V27F variant (also known as c.79G>T), located in coding exon 2 of the ATM gene, results from a G to T substitution at nucleotide position 79. The valine at codon 27 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298849 SCV002598658 uncertain significance not specified 2022-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832364 SCV002090210 uncertain significance Ataxia-telangiectasia syndrome 2020-08-12 no assertion criteria provided clinical testing

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