ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala)

gnomAD frequency: 0.00001  dbSNP: rs550721009
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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) RCV000288322 SCV000335625 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV001823129 SCV002073028 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The missense variant p.T1036A in DYSF (NM_003494.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.T1036A variant is observed in 2/30,614 (0.0065%) alleles from individuals of South Asian background in gnomAD Exomes and in 2/978 (0.2045%) alleles from individuals of South Asian background in 1000 Genomes. In silico tools are contradictory in their prediction (SIFT-Damaging, Polyphen-2-Tolerated) and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance

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