ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)

dbSNP: rs1555107293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657370 SCV000779103 likely pathogenic not provided 2017-08-10 criteria provided, single submitter clinical testing This deletion of two nucleotides in ATM is denoted c.5521_5522delGT at the cDNA level and p.Val1841ThrfsX7 (V1841TfsX7) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GACT[delGT]ACTT. The deletion causes a frameshift which changes a Valine to a Threonine at codon 1841, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
3billion RCV002283503 SCV002573065 pathogenic Ataxia-telangiectasia syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with ATM-related disorder (ClinVar ID: VCV000545814). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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