ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) (rs1553163360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665090 SCV000789152 likely pathogenic Muscle eye brain disease 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV001213624 SCV001385266 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2019-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln370Alafs*47) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POMGNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 550363). Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310, 21447391, 26908613, 27391550). For these reasons, this variant has been classified as Pathogenic.

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