ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4517T>C (p.Val1506Ala)

dbSNP: rs1555099878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022618 SCV001184376 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-19 criteria provided, single submitter clinical testing The p.V1506A variant (also known as c.4517T>C), located in coding exon 29 of the ATM gene, results from a T to C substitution at nucleotide position 4517. The valine at codon 1506 is replaced by alanine, 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.
Baylor Genetics RCV003467667 SCV004209423 uncertain significance Familial cancer of breast 2023-09-20 criteria provided, single submitter clinical testing

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