ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=)

dbSNP: rs781449138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230870 SCV001403370 uncertain significance Qualitative or quantitative defects of dysferlin 2022-07-09 criteria provided, single submitter clinical testing This sequence change affects codon 1301 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 also falls at the last nucleotide of exon 36, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 957816). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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. RCV001828843 SCV002082299 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-17 no assertion criteria provided clinical testing

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