ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3981C>T (p.Ile1327=) (rs397516934)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038033 SCV000061699 likely benign not specified 2012-04-19 criteria provided, single submitter clinical testing The Ile1327Ile variant in exon 23 of DSP: This variant is not expected to have c linical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. The Ile1327Ile variant in exon 23 of DSP (allele frequency = n/a)
GeneDx RCV000038033 SCV000512881 likely benign not specified 2017-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000545300 SCV000641309 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-03-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756043 SCV000883751 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing The c.3981C>T; p.Ile1327Ile variant (rs397516934, ClinVar variant ID 44898) does not alter the amino acid sequence of the DSP protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.009% (identified on 24 out of 276,534 chromosomes). Based on the available information, the c.3981C>T variant is likely to be benign.

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