ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro)

dbSNP: rs1064793036
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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 RCV001960923 SCV002244309 uncertain significance Ataxia-telangiectasia syndrome 2021-02-27 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 1052 of the ATM protein (p.Ala1052Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.
Ambry Genetics RCV004044487 SCV005037783 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-16 criteria provided, single submitter clinical testing The p.A1052P variant (also known as c.3154G>C) is located in coding exon 21 of the ATM gene. The alanine at codon 1052 is replaced by proline, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 21. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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