ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)

gnomAD frequency: 0.00001  dbSNP: rs761821795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272017 SCV000337342 pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000272017 SCV002017779 likely pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing
Invitae RCV001859606 SCV002154843 pathogenic Walker-Warburg congenital muscular dystrophy 2022-12-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 284644). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKRP protein in which other variant(s) (p.Gln460*) have been determined to be pathogenic (PMID: 16476814). 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 FKRP-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln105*) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 391 amino acid(s) of the FKRP protein.
Baylor Genetics RCV003463757 SCV004197422 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-06-07 criteria provided, single submitter clinical testing

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