ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)

gnomAD frequency: 0.00009  dbSNP: rs775881095
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732785 SCV000860771 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139687 SCV001299867 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.
Invitae RCV001139687 SCV001609748 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535291 SCV003709001 uncertain significance Inborn genetic diseases 2021-11-08 criteria provided, single submitter clinical testing The c.392C>G (p.P131R) alteration is located in exon 5 (coding exon 5) of the DYSF gene. This alteration results from a C to G substitution at nucleotide position 392, causing the proline (P) at amino acid position 131 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000732785 SCV003829649 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing

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