ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3307G>C (p.Asp1103His)

dbSNP: rs1555090114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575057 SCV000668011 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-31 criteria provided, single submitter clinical testing The p.D1103H variant (also known as c.3307G>C), located in coding exon 22 of the ATM gene, results from a G to C substitution at nucleotide position 3307. The aspartic acid at codon 1103 is replaced by histidine, 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.
Invitae RCV000805700 SCV000945666 uncertain significance Ataxia-telangiectasia syndrome 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1103 of the ATM protein (p.Asp1103His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 482652). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002476234 SCV002800876 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2021-10-19 criteria provided, single submitter clinical testing

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