ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)

gnomAD frequency: 0.00033  dbSNP: rs145272777
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000374736 SCV000338824 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
Counsyl RCV000664874 SCV000788897 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000374736 SCV000892569 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000778917 SCV000915327 uncertain significance Qualitative or quantitative defects of dysferlin 2018-02-13 criteria provided, single submitter clinical testing The DYSF gene is the only gene in which variants are known to cause dysferlinopathy. The DYSF c.5216C>A (p.Pro1739Gln) missense variant has been reported in one study in which it is found in two siblings from a family with a history of dysferlinopathy. The variant was found in a compound heterozygous state with a deletion in one sibling and in a heterozygous state in the other (Jin et al. 2016). Both siblings were found to be negative for dysferlin expression using immunohistochemical analysis of muscle tissue (Jin et al. 2016). Control data are unavailable for this variant, which is reported at a frequency of 0.005924 in the Ashkenazi Jewish population of the Genome Aggregation Database. Based on the evidence, the p.Pro1739Gln variant is classified as a variant of unknown significance but suspicious for pathogenicity for dysferlinopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp RCV000778917 SCV001018414 likely benign Qualitative or quantitative defects of dysferlin 2024-01-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329706 SCV001521220 uncertain significance Miyoshi muscular dystrophy 1 2019-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001329706 SCV001786745 uncertain significance Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000664874 SCV001786746 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563739 SCV001786747 uncertain significance Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000374736 SCV001788468 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30564623, 27647186)
Natera, Inc. RCV000664874 SCV001463473 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003940011 SCV004752780 likely benign DYSF-related disorder 2019-12-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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