ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)

gnomAD frequency: 0.00024  dbSNP: rs372880553
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000310622 SCV000338127 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV000803161 SCV000943023 likely benign Qualitative or quantitative defects of dysferlin 2024-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000803161 SCV001300243 uncertain significance Qualitative or quantitative defects of dysferlin 2018-02-16 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics Inc RCV000310622 SCV001477221 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000310622 SCV003829616 uncertain significance not provided 2020-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463758 SCV004194163 likely pathogenic Miyoshi muscular dystrophy 1 2023-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833347 SCV002082257 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-26 no assertion criteria provided clinical testing

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