ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1601C>T (p.Pro534Leu)

gnomAD frequency: 0.00001  dbSNP: rs587782212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690820 SCV000818548 uncertain significance Ataxia-telangiectasia syndrome 2019-01-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 570049). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 534 of the ATM protein (p.Pro534Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV001012377 SCV001172817 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-15 criteria provided, single submitter clinical testing The p.P534L variant (also known as c.1601C>T), located in coding exon 9 of the ATM gene, results from a C to T substitution at nucleotide position 1601. The proline at codon 534 is replaced by leucine, an amino acid with similar 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.

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