ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)

gnomAD frequency: 0.00013  dbSNP: rs139194093
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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) RCV000382528 SCV000332020 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
Invitae RCV000648004 SCV000769814 likely benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000648004 SCV001303103 uncertain significance Qualitative or quantitative defects of dysferlin 2018-01-12 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.
Revvity Omics, Revvity RCV000382528 SCV003829651 uncertain significance not provided 2021-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243035 SCV003940294 uncertain significance Inborn genetic diseases 2023-03-27 criteria provided, single submitter clinical testing The c.3487G>A (p.D1163N) alteration is located in exon 32 (coding exon 32) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 3487, causing the aspartic acid (D) at amino acid position 1163 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000382528 SCV004224926 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272831 SCV001455222 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-03-10 no assertion criteria provided clinical testing

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