ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) (rs759675023)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000269566 SCV000342609 uncertain significance not provided 2016-06-06 criteria provided, single submitter clinical testing
Counsyl RCV000666599 SCV000790915 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000706501 SCV000835555 uncertain significance Dysferlinopathy 2018-05-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 803 of the DYSF protein (p.Arg803His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs759675023, ExAC 0.001%). This variant has been observed in the heterozygous state in an individual affected with limb-girdle muscular dystrophy (PMID: 21816046). ClinVar contains an entry for this variant (Variation ID: 288493). 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"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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