ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) (rs794728148)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181371 SCV000233672 pathogenic not provided 2013-08-10 criteria provided, single submitter clinical testing Although the c.6510_6511insCT variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Asparagine 2171, changing it to a Leucine, and creating a premature stop codon at position 17 of the new reading frame, denoted p.Asn2171LeufsX17. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the DSP gene have been reported in association with ARVC. In summary, c.6510_6511insCT in the DSP gene is interpreted as a pathogenic variant.
Invitae RCV000806504 SCV000946508 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-11-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSP gene (p.Asn2171Leufs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 701 amino acids of the DSP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. ClinVar contains an entry for this variant (Variation ID: 199927). This variant disrupts the C-terminus of the DSP protein. Other variant(s) that disrupt this region (p.Thr2625Argfs*18, p.Ile2359Serfs*10, p.His2195Tyrfs*26) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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