ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1335del (p.Met446fs)

dbSNP: rs1553163206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648202 SCV000770016 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2018-11-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met446Cysfs*63) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with POMGNT1-related disease. ClinVar contains an entry for this variant (Variation ID: 538743). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310).

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