ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5776_5790del (p.Thr1926_Asp1930del) (rs786203678)

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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 RCV000167089 SCV000217917 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000167089 SCV000904624 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-21 criteria provided, single submitter clinical testing
GeneDx RCV000479774 SCV000572062 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing This in-frame deletion of 15 nucleotides in ATM is denoted c.5776_5790del15 at the cDNA level and p.Thr1926_D1930del (T1926_D1930del) at the protein level. The normal sequence is AGGA[del15]GCTT. This deletion occurs in a region which is not located in a known functional domain (Tavtigian 2009). 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 Thr1926_D1930del to be a variant of uncertain significance.
Invitae RCV000628086 SCV000748976 uncertain significance Ataxia-telangiectasia syndrome 2018-11-09 criteria provided, single submitter clinical testing This variant, c.5776_5790delACAATTTTTAATGAT, results in the deletion of 5 amino acids of the ATM protein (p.Thr1926_Asp1930del), 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: 187366). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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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