ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)

gnomAD frequency: 0.00001  dbSNP: rs376196220
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165683 SCV000216421 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-02 criteria provided, single submitter clinical testing The p.S421P variant (also known as c.1261T>C), located in coding exon 9 of the ATM gene, results from a T to C substitution at nucleotide position 1261. The serine at codon 421 is replaced by proline, an amino acid with similar properties. This amino acid position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000203884 SCV000260461 likely benign Ataxia-telangiectasia syndrome 2023-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000480887 SCV000570634 uncertain significance not provided 2024-01-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV000165683 SCV001342223 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468750 SCV004211981 uncertain significance Familial cancer of breast 2023-05-08 criteria provided, single submitter clinical testing

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