ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2943C>T (p.Gly981=)

dbSNP: rs886042637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000261131 SCV000335622 uncertain significance not provided 2015-09-23 criteria provided, single submitter clinical testing
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences RCV003153550 SCV003842218 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-08-23 criteria provided, single submitter clinical testing The p.Gly981= variant in DYSF has been observed in homozygous state in two individuals with clinically suspected Autosomal recessive limb-girdle muscular dystrophy type 2B which is an autosomal recessive disorder. The variant is novel (not observed in any individuals in 1KG and our inhouse database). This variant is observed in 1/30,760 (0.0033%) alleles from individuals of gnomAD South Asian background in gnomAD only in heterozygous state. The p.Gly981= variant is predicted to introduce a novel donor splice site at this position by 3 of 4 splice site algorithms, resulting in a frameshift. For these reasons, this variant has been classified as Pathogenic.

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