ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.641-1117delinsAGG (rs587779851)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235106 SCV000149125 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted ATM c.5791delGinsCCT at the cDNA level and p.Ala1931ProfsX7 (A1931PfsX7) at the protein level. The surrounding sequence is TGAT[delG][insCCT]CTTT. The variant causes a frameshift, which changes an Alanine to a Proline at codon 1931, and creates a premature stop codon at position 7 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. ATM c.5791delGinsCCT has been reported in association with Ataxia-telangiectasia (Castellvi-Bel 1999, Cavaciuti 2005). We consider this variant to be pathogenic.
Ambry Genetics RCV000115216 SCV000187264 pathogenic Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000409117 SCV000485322 likely pathogenic Ataxia-telangiectasia syndrome 2015-11-20 criteria provided, single submitter clinical testing
Invitae RCV000409117 SCV000950702 pathogenic Ataxia-telangiectasia syndrome 2019-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1931Profs*7) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with ataxia-telangiectasia and an individual affected with melanoma and pancreatic cancer (PMID: 10425038, 26681312). ClinVar contains an entry for this variant (Variation ID: 127411). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Color RCV000115216 SCV001355424 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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