ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5766_5768TTC[1] (p.Ser1924del) (rs866749094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479250 SCV000567179 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in ATM is denoted c.5769_5771delTTC at the cDNA level and p.Ser1924del (S1924del) at the protein level. The normal sequence, with the bases that are deleted in braces, is CTTC[TTC]AGGA. This in frame deletion of a single Serine residue occurs at a position that is not conserved across species and is not located in a known functional domain (Uniprot). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider ATM Ser1924del to be a variant of uncertain significance.
Invitae RCV000690169 SCV000817848 uncertain significance Ataxia-telangiectasia syndrome 2018-12-05 criteria provided, single submitter clinical testing This variant, c.5769_5771delTTC, results in the deletion of 1 amino acid of the ATM protein (p.Ser1924del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 419402). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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