ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4363A>C (p.Ser1455Arg)

dbSNP: rs2135763861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002116295 SCV002447881 benign Ataxia-telangiectasia syndrome 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681451 SCV005168006 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-23 criteria provided, single submitter clinical testing The p.S1455R variant (also known as c.4363A>C), located in coding exon 28 of the ATM gene, results from an A to C substitution at nucleotide position 4363. The serine at codon 1455 is replaced by arginine, an amino acid with dissimilar 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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