ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)

gnomAD frequency: 0.00009  dbSNP: rs538781815
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000287690 SCV000344590 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV004549620 SCV000930329 uncertain significance DYSF-related disorder 2019-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001062505 SCV001227311 benign Qualitative or quantitative defects of dysferlin 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518115 SCV003575145 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.4757G>A (p.R1586Q) alteration is located in exon 43 (coding exon 43) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 4757, causing the arginine (R) at amino acid position 1586 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000287690 SCV003830845 uncertain significance not provided 2020-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271546 SCV001452781 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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