ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7629+3A>C

dbSNP: rs752251778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215238 SCV000277849 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter clinical testing The c.7629+3A>C intronic variant results from an A to C substitution 3 nucleotides after coding exon 50 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis 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 RCV000537409 SCV000622762 uncertain significance Ataxia-telangiectasia syndrome 2021-09-26 criteria provided, single submitter clinical testing This sequence change falls in intron 51 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs752251778, ExAC 0.002%). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 233474). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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.
Color Diagnostics, LLC DBA Color Health RCV000215238 SCV000904735 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000537409 SCV002080777 uncertain significance Ataxia-telangiectasia syndrome 2021-05-17 no assertion criteria provided clinical testing

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