ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) (rs202123283)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726455 SCV000344777 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405461 SCV000431753 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300931 SCV000431754 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000726455 SCV000621284 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DYSF gene. The H735N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The H735N variant is observed in 71/18870 (0.4%) alleles from individuals of East Asian background (Lek et al., 2016). This substitution occurs at a position that is not conserved. However, the H735N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000726455 SCV000649625 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726455 SCV001143812 uncertain significance not provided 2018-12-24 criteria provided, single submitter clinical testing

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