ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.456G>T (p.Val152=)

gnomAD frequency: 0.00001  dbSNP: rs1555059433
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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 RCV000572522 SCV000667853 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-16 criteria provided, single submitter clinical testing The c.456G>T variant (also known as p.V152V), located in coding exon 4 of the ATM gene, results from a G to T substitution at nucleotide position 456. This nucleotide substitution does not change the at codon 152. This nucleotide position is well conserved through mammals. In silico splice site analysis for this alteration is inconclusive but there is a slight weakening of the native donor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000572522 SCV001354053 likely benign Hereditary cancer-predisposing syndrome 2020-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500810 SCV001705610 likely benign Ataxia-telangiectasia syndrome 2023-08-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592710 SCV005085223 benign Familial cancer of breast 2024-04-19 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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