ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)

gnomAD frequency: 0.00001  dbSNP: rs1564364615
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729516 SCV000857186 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
Invitae RCV000799994 SCV000939689 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu421Glufs*12) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with Walker-Warburg syndrome (PMID: 17559086, 18752264). ClinVar contains an entry for this variant (Variation ID: 594265). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV000729516 SCV002019494 pathogenic not provided 2021-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485867 SCV002795379 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2022-04-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472262 SCV004204042 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-06-20 criteria provided, single submitter clinical testing

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