ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.137G>A (p.Gly46Asp) (rs140403872)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522871 SCV000620695 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The G46D variant has been previously reported in one Caucasian/Italian female with HCM, who was also diagnosed with a mild form of Fabry disease and harbored other cardiogenetic variants including a pathogenic variant in the GLA gene (Bottillo et al., 2016); no segregation studies were reported. This variant is also not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G46D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Nevertheless, this substitution occurs at a position that is not conserved across species and in silico analysis predicts this variant likely does not alter the protein structure/function.
Fulgent Genetics,Fulgent Genetics RCV000764657 SCV000895781 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 2018-10-31 criteria provided, single submitter clinical testing

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