ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) (rs756328339)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724183 SCV000228712 pathogenic not provided 2016-08-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724183 SCV001143816 likely pathogenic not provided 2018-11-27 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism.
Invitae RCV001050002 SCV001214088 pathogenic Qualitative or quantitative defects of dysferlin 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1014 of the DYSF protein (p.Tyr1014Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs756328339, ExAC 0.01%). This variant has been observed to be homozygous and in combination with another DYSF variant in several individuals affected with DYSF-related disease (PMID: 20544924, 15827562). ClinVar contains an entry for this variant (Variation ID: 196175). 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: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000176934 SCV000789027 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2016-12-27 no assertion criteria provided clinical testing

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