ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6975G>T (p.Ala2325=)

dbSNP: rs556778314
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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 RCV000461037 SCV000546951 uncertain significance Ataxia-telangiectasia syndrome 2022-10-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 407622). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 affects codon 2325 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATM protein. This variant also falls at the last nucleotide of exon 47, which is part of the consensus splice site for this exon.
Color Diagnostics, LLC DBA Color Health RCV000775806 SCV000910261 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-19 criteria provided, single submitter clinical testing

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