ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4450C>A (p.Leu1484Ile)

gnomAD frequency: 0.00001  dbSNP: rs375465887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733141 SCV000622031 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing The L1466I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L1466I variant is observed in 5/110,870 (0.005%) alleles from individuals of European background (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Eurofins Ntd Llc (ga) RCV000733141 SCV000861165 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing

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