ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7092A>G (p.Ala2364=)

dbSNP: rs1591150359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026027 SCV001188328 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-10 criteria provided, single submitter clinical testing The c.7092A>G variant (also known as p.A2364A), located in coding exon 48, results from an A to G substitution at nucleotide position 7092 of the ATM gene. This nucleotide substitution does not change the amino acid at codon 2364. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001026027 SCV001351595 likely benign Hereditary cancer-predisposing syndrome 2019-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001449380 SCV001652495 likely benign Ataxia-telangiectasia syndrome 2022-03-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004590018 SCV005083042 benign Familial cancer of breast 2024-06-13 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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