ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7689_7694dup (p.Asn2565_Gly2566insLysLys) (rs1554109062)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458504 SCV000543258 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2016-10-12 criteria provided, single submitter clinical testing This sequence change inserts 6 nucleotides in exon 24 of the DSP mRNA (c.7689_7694dupGAAAAA). This leads to the insertion of 2 amino acid residue(s) in the DSP protein (p.Lys2564_Asn2565insLysLys) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DSP-related disease. In summary, this is a rare in-frame 2-codon gain with unknown impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance

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