ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5993G>T (p.Gly1998Val)

gnomAD frequency: 0.00001  dbSNP: rs1188125296
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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 RCV000547084 SCV000622631 uncertain significance Ataxia-telangiectasia syndrome 2023-09-29 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 453608). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1998 of the ATM protein (p.Gly1998Val).
Ambry Genetics RCV000567681 SCV000668144 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-09 criteria provided, single submitter clinical testing The p.G1998V variant (also known as c.5993G>T), located in coding exon 39 of the ATM gene, results from a G to T substitution at nucleotide position 5993. The glycine at codon 1998 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is 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 RCV004568682 SCV005057125 uncertain significance Familial cancer of breast 2023-12-25 criteria provided, single submitter clinical testing

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