ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) (rs267606668)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132184 SCV000187263 likely pathogenic Hereditary cancer-predisposing syndrome 2017-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s)
Counsyl RCV000202436 SCV000486124 likely pathogenic Ataxia-telangiectasia syndrome 2016-04-06 criteria provided, single submitter clinical testing
Invitae RCV000202436 SCV000546759 pathogenic Ataxia-telangiectasia syndrome 2018-09-27 criteria provided, single submitter clinical testing This variant, c.7875_7876delTGinsGC, is a complex sequence change that results in the substitution of two amino acids of the ATM protein (p.Asp2625_Ala2626delinsGluPro). This variant is not present in population databases (rs267606668, ExAC no frequency). This variant has been reported in the literature in individuals affected with ataxia telangiectasia (A-T) as homozygous or compound heterozygous with a second pathogenic ATM variant (PMID: 9521587, 19535770, 22213089). In the literature, this variant is also known as a double missense variant, D2625E and A2626P on the same chromosome. ClinVar contains an entry for this variant (Variation ID: 3030). An experimental study has shown that lymphoblast cell lines derived from a homozygous individual affected with A-T do not have ATM kinase activity (PMID: 22213089). For these reasons, this variant has been classified as Pathogenic.
Color RCV000132184 SCV000682438 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679143 SCV000805620 likely pathogenic not provided 2016-04-26 criteria provided, single submitter clinical testing
Mendelics RCV000202436 SCV000838600 pathogenic Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
OMIM RCV000202436 SCV000023327 pathogenic Ataxia-telangiectasia syndrome 2004-04-30 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000202436 SCV000189490 not provided Ataxia-telangiectasia syndrome no assertion provided not provided

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