ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys)

dbSNP: rs587782688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020972 SCV001182525 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-10 criteria provided, single submitter clinical testing The p.Y1241C variant (also known as c.3722A>G), located in coding exon 24 of the ATM gene, results from an A to G substitution at nucleotide position 3722. The tyrosine at codon 1241 is replaced by cysteine, an amino acid with highly dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001071575 SCV001236885 uncertain significance Ataxia-telangiectasia syndrome 2022-01-28 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1241 of the ATM protein (p.Tyr1241Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 824124). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001071575 SCV002079003 uncertain significance Ataxia-telangiectasia syndrome 2021-09-22 no assertion criteria provided clinical testing

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