ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3329C>T (p.Ala1110Val)

dbSNP: rs1479434069
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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 RCV001977078 SCV002276267 uncertain significance Ataxia-telangiectasia syndrome 2021-08-07 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1110 of the ATM protein (p.Ala1110Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.
Baylor Genetics RCV003464364 SCV004215513 uncertain significance Familial cancer of breast 2023-05-23 criteria provided, single submitter clinical testing

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