ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7858G>T (p.Val2620Phe)

dbSNP: rs1427723678
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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 RCV001026879 SCV001189349 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-22 criteria provided, single submitter clinical testing The p.V2620F variant (also known as c.7858G>T), located in coding exon 52 of the ATM gene, results from a G to T substitution at nucleotide position 7858. The valine at codon 2620 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001050743 SCV001214864 uncertain significance Ataxia-telangiectasia syndrome 2020-06-03 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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 valine with phenylalanine at codon 2620 of the ATM protein (p.Val2620Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.
Baylor Genetics RCV004570077 SCV005053019 uncertain significance Familial cancer of breast 2023-11-19 criteria provided, single submitter clinical testing

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