ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)

gnomAD frequency: 0.00014  dbSNP: rs140002194
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000488274 SCV000336381 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488274 SCV000575213 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000488274 SCV000841949 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The available data on the frequency of this variant in large general population databases was not informative towards the evaluation of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
Illumina Laboratory Services, Illumina RCV001142308 SCV001302741 uncertain significance Qualitative or quantitative defects of dysferlin 2017-04-28 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.
GeneDx RCV000488274 SCV001811012 uncertain significance not provided 2019-02-11 criteria provided, single submitter clinical testing Has not been previously reported as pathogenic or benign to our knowledge; Observed in 0.0115% (32/277172) alleles in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV002494838 SCV002777180 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001142308 SCV003256838 benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518899 SCV003699662 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.758G>A (p.R253Q) alteration is located in exon 7 (coding exon 7) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 758, causing the arginine (R) at amino acid position 253 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000488274 SCV003831328 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828197 SCV002079770 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-03 no assertion criteria provided clinical testing

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