ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.447del (p.Phe149fs)

dbSNP: rs386834029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514267 SCV003523224 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 56599). This variant is also known as 541delT, Phe149 frameshift 167Stop. This premature translational stop signal has been observed in individual(s) with muscle–eye–brain disease (PMID: 12588800). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe149Leufs*19) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310, 20816175, 21447391, 26908613, 27391550).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050012 SCV000082421 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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