ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr)

dbSNP: rs1555127024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544384 SCV000622794 uncertain significance Ataxia-telangiectasia syndrome 2020-10-30 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 conditions. ClinVar contains an entry for this variant (Variation ID: 453717). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with tyrosine at codon 2672 of the ATM protein (p.Asp2672Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine.
Ambry Genetics RCV000566307 SCV000667946 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-23 criteria provided, single submitter clinical testing The p.D2672Y variant (also known as c.8014G>T), located in coding exon 54 of the ATM gene, results from a G to T substitution at nucleotide position 8014. The aspartic acid at codon 2672 is replaced by tyrosine, an amino acid with highly dissimilar 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320471 SCV004024724 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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