ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) (rs121908958)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790688 SCV000331293 pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763088 SCV000893615 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001229764 SCV001402219 pathogenic Qualitative or quantitative defects of dysferlin 2019-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1046 of the DYSF protein (p.Arg1046His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs121908958, ExAC 0.02%). This variant has been observed in combination with a second variant in the DYSF gene in several individuals affected with Miyoshi myopathy and was observed to segregate with disease in a family (PMID: 25591676, 18853459, 11468312, 27647186). ClinVar contains an entry for this variant (Variation ID: 6675). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007060 SCV000027256 pathogenic Miyoshi muscular dystrophy 1 2003-06-10 no assertion criteria provided literature only
Counsyl RCV000176936 SCV000789409 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-02-10 no assertion criteria provided clinical testing

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