ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)

gnomAD frequency: 0.00327  dbSNP: rs74423119
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251223 SCV000309654 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000513999 SCV000512916 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513999 SCV000609620 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Invitae RCV001081560 SCV000649623 benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081560 SCV001300092 uncertain significance Qualitative or quantitative defects of dysferlin 2018-01-13 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.
Ambry Genetics RCV002519917 SCV003531522 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.2053C>G (p.L685V) alteration is located in exon 21 (coding exon 21) of the DYSF gene. This alteration results from a C to G substitution at nucleotide position 2053, causing the leucine (L) at amino acid position 685 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828138 SCV002079840 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-02-26 no assertion criteria provided clinical testing

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