ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) (rs150029218)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000376994 SCV000431684 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284809 SCV000431685 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000732976 SCV000620523 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DYSF gene. The T208A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T208A variant is observed in 8/11570 (0.1%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T208A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000553818 SCV000649742 uncertain significance Dysferlinopathy 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 208 of the DYSF protein (p.Thr208Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs150029218, ExAC 0.07%). This variant has not been reported in the literature in individuals with a DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 336945). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732976 SCV000860978 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing

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