ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)

dbSNP: rs765230689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595731 SCV000708878 pathogenic not provided 2017-06-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763189 SCV000893801 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 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003471965 SCV004204045 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2024-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767405 SCV004603706 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr352*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Walker–Warburg syndrome (PMID: 15637732). ClinVar contains an entry for this variant (Variation ID: 502224). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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