ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1175+1G>A (rs1051679985)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383583 SCV001582773 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-02-26 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the POMT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital muscular dystrophy (PMID: 16717220, 22323514). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS12+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 3251). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003407 SCV000023565 pathogenic MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 2006-05-23 no assertion criteria provided literature only

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