ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7870T>G (p.Cys2624Gly)

dbSNP: rs1591178767
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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 RCV001026893 SCV001189365 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-11 criteria provided, single submitter clinical testing The p.C2624G variant (also known as c.7870T>G), located in coding exon 52 of the ATM gene, results from a T to G substitution at nucleotide position 7870. The cysteine at codon 2624 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003467694 SCV004207059 uncertain significance Familial cancer of breast 2023-10-05 criteria provided, single submitter clinical testing

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