ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile)

dbSNP: rs1591692969
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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 RCV000823593 SCV000964458 uncertain significance Ataxia-telangiectasia syndrome 2020-12-27 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 tolerated, 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 1662 of the ATM protein (p.Thr1662Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Ambry Genetics RCV002336722 SCV002642209 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-17 criteria provided, single submitter clinical testing The p.T1662I variant (also known as c.4985C>T), located in coding exon 32 of the ATM gene, results from a C to T substitution at nucleotide position 4985. The threonine at codon 1662 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not 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.
Baylor Genetics RCV003461285 SCV004208934 uncertain significance Familial cancer of breast 2023-10-11 criteria provided, single submitter clinical testing

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