Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725642 | SCV000338340 | uncertain significance | not provided | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725642 | SCV000589641 | uncertain significance | not provided | 2024-09-04 | criteria provided, single submitter | clinical testing | Reported with two other variants in DYSF in a patient with muscular dystrophy in published literature; however, no further clinical or segregation information was provided (PMID: 21522182); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21522182, 25898921, 30564623) |
Labcorp Genetics |
RCV000530924 | SCV000649697 | likely benign | Qualitative or quantitative defects of dysferlin | 2025-01-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000664797 | SCV000788812 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2016-12-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000530924 | SCV001298020 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2017-04-27 | 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. |
Mayo Clinic Laboratories, |
RCV000725642 | SCV002541836 | uncertain significance | not provided | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000725642 | SCV003829645 | uncertain significance | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235177 | SCV003933721 | uncertain significance | not specified | 2023-05-05 | criteria provided, single submitter | clinical testing | Variant summary: DYSF c.4480T>C (p.Tyr1494His) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00044 in 247334 control chromosomes in the gnomAD database, including 1 homozygote (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in DYSF causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (0.00044 vs 0.0031), allowing no conclusion about variant significance. c.4480T>C has been reported in the literature in at least one individual affected with Limb-Girdle Muscular Dystrophy, however without strong evidence for causality (e.g., Cacciottolo_2011). This report does not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 21522182, 25898921). Eight ClinVar submitters (evaluation after 2014) have cited the variant with conflicting assessments, with 7 submitters classifying the variant as uncertain significance and one submitter classifying it as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Natera, |
RCV000664797 | SCV002082333 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-24 | no assertion criteria provided | clinical testing |