ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)

dbSNP: rs1064794020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484686 SCV000567601 pathogenic not provided 2018-03-26 criteria provided, single submitter clinical testing The Q1962X nonsense variant in the DYSF gene has been reported previously in two brothers with dysferlinopathywho were compound heterozygous for Q1962X and another DYSF variant (Rosales et al.,2010). One study indicated Q1962X induced a large splicing change, though in silico algorithms do notpredict Q1962X affects splicing (Xiong et al., 2014). This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. The Q1962Xvariant was not observed in approximately 6500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. Weinterpret Q1962X as a pathogenic variant.
Invitae RCV000537475 SCV000649732 pathogenic Qualitative or quantitative defects of dysferlin 2023-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 419655). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 20544924). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1962*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480).
Revvity Omics, Revvity RCV000484686 SCV002021833 pathogenic not provided 2021-05-04 criteria provided, single submitter clinical testing
Counsyl RCV000668514 SCV000793132 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-07-28 no assertion criteria provided clinical testing

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