ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly)

gnomAD frequency: 0.00001  dbSNP: rs1486623448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216120 SCV001387897 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 1088 of the DYSF protein (p.Ala1088Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001828719 SCV002082268 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-27 no assertion criteria provided clinical testing

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