ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)

gnomAD frequency: 0.00001  dbSNP: rs1048865247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666156 SCV000790401 pathogenic Muscle eye brain disease 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861750 SCV002247294 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-07-06 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: 551169). This premature translational stop signal has been observed in individual(s) with POMGNT1-related conditions (PMID: 20816175, 22323514). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser153*) 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).
Baylor Genetics RCV003465446 SCV004206024 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2022-07-21 criteria provided, single submitter clinical testing

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