ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.579_580del (p.Val195fs)

gnomAD frequency: 0.00006  dbSNP: rs1032439203
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008771 SCV001168560 pathogenic not provided 2023-11-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV001328596 SCV001519748 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2019-03-01 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001008771 SCV002024724 likely pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing
Invitae RCV001862754 SCV002139146 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val195Argfs*42) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 817606). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003461312 SCV004206048 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-09-26 criteria provided, single submitter clinical testing

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