ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5546T>C (p.Ile1849Thr)

dbSNP: rs2135943454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822609 SCV002067251 uncertain significance not specified 2021-07-29 criteria provided, single submitter clinical testing DNA sequence analysis of the ATM gene demonstrated a sequence change, c.5546T>C, in exon 37 that results in an amino acid change, p.Ile1849Thr. This sequence change has not been described in population databases including gnomAD. The p.Ile1849Thr change affects a highly conserved amino acid residue located in a domain of the ATM protein that is known to be functional. The p.Ile1849Thr substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in individuals with ATM-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Ile1849Thr change remains unknown at this time.

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