ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) (rs150942486)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727399 SCV000621754 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DYSF gene. The P1214L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P1214L variant is observed in 31/30780 (0.1%) alleles from individuals of South Asian background (Lek et al., 2016). The P1214L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727399 SCV000708226 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727399 SCV000892567 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765698 SCV000897040 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272834 SCV001455225 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-11-11 no assertion criteria provided clinical testing

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