ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2748G>T (p.Val916=)

gnomAD frequency: 0.00001  dbSNP: rs1050470790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719097 SCV000722559 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV000627946 SCV000748831 likely benign Ataxia-telangiectasia syndrome 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016478 SCV001177438 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-14 criteria provided, single submitter clinical testing The c.2748G>T variant (also known as p.V916V), located in coding exon 17 of the ATM gene, results from a G to T substitution at nucleotide position 2748. This nucleotide substitution does not change the amino acid at codon 916. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001016478 SCV001347105 likely benign Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592936 SCV005081990 benign Familial cancer of breast 2024-05-10 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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