ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)

dbSNP: rs1553162663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667729 SCV000792225 likely pathogenic Muscle eye brain disease 2017-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530722 SCV002966554 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-08-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 552466). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POMGNT1 protein in which other variant(s) (p.Leu622*) have been determined to be pathogenic (PMID: 22554691). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys618*) in the POMGNT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the POMGNT1 protein.

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