ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1658dup (p.Asn553fs)

dbSNP: rs886043110
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291337 SCV000338496 pathogenic not provided 2016-01-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000291337 SCV002019497 pathogenic not provided 2020-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000291337 SCV002063143 likely pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475908 SCV004204103 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2023-08-16 criteria provided, single submitter clinical testing
Invitae RCV003765630 SCV004610187 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2023-07-29 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: 285471). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Asn553Lysfs*10) in the POMT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT2 are known to be pathogenic (PMID: 15894594).

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