ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)

dbSNP: rs1946499901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470877 SCV004193879 likely pathogenic Ataxia-telangiectasia-like disorder 1 2022-12-02 criteria provided, single submitter clinical testing
Invitae RCV003771833 SCV004640836 pathogenic Ataxia-telangiectasia-like disorder 2023-02-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1260482). This premature translational stop signal has been observed in individual(s) with MRE11-related conditions (PMID: 32658311). This sequence change creates a premature translational stop signal (p.Val367Glyfs*5) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341).
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001669300 SCV001885895 likely pathogenic Breast carcinoma no assertion criteria provided clinical testing Invasive breast carcinoma, Estrogen receptor:+ Progesterone receptor:+ Her-2:-

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