ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4255_4257CTT[1] (p.Leu1420del) (rs876659842)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214940 SCV000276730 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000214940 SCV000687534 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing
Invitae RCV000460565 SCV000546685 uncertain significance Ataxia-telangiectasia syndrome 2016-10-03 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 29 of the ATM mRNA (c.4258_4260delCTT). This leads to the deletion of 1 amino acid residue in the ATM protein (p.Leu1420del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 232566). 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, this variant is a rare deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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