ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=)

gnomAD frequency: 0.00002  dbSNP: rs772742658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648012 SCV000769822 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-30 criteria provided, single submitter clinical testing This sequence change affects codon 1282 of the DYSF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DYSF protein. This variant is present in population databases (rs772742658, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001829804 SCV002082297 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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