ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) (rs119462982)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179928 SCV000232248 pathogenic not provided 2015-02-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000179928 SCV001334771 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001264826 SCV001443023 likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PS4_Moderate,PM2,PM3
Invitae RCV001385876 SCV001585884 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-03-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 200 of the POMT1 protein (p.Ala200Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs119462982, ExAC 0.003%). This variant has been observed in individual(s) with clinical features of muscular dystrophy-dystroglycanopathy (PMID: 15792865, 28097321, 30426380). ClinVar contains an entry for this variant (Variation ID: 3243). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003399 SCV000023557 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 2005-04-01 no assertion criteria provided literature only

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