ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2980-14G>A

gnomAD frequency: 0.00001  dbSNP: rs374508907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001137793 SCV001297773 uncertain significance Qualitative or quantitative defects of dysferlin 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001137793 SCV002178022 uncertain significance Qualitative or quantitative defects of dysferlin 2022-07-12 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. This variant is present in population databases (rs374508907, gnomAD 0.002%). This variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 19154541). ClinVar contains an entry for this variant (Variation ID: 895603). 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.

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