ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) (rs370550974)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172536 SCV000055166 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172536 SCV000567804 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing The K1099N variant in the DSP gene has been reported in one individual who underwent whole exome sequencing as part of the ClinSeq study; no specific clinical information was provided, however, K1099N was considered a likely benign variant by study authors (Ng et al., 2013). K1099N was observed in 13/10,178 (0.13%) alleles from individuals of African ancestry in the Exome Aggregation Consortium (Lek et al., 2016). The K1099N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In addition, this substitution occurs at a position that is conserved in mammals. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014).
Invitae RCV000552894 SCV000641304 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-05-27 criteria provided, single submitter clinical testing

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