ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.531C>G (p.Gly177=) (rs138865799)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154706 SCV000204385 likely benign not specified 2015-06-12 criteria provided, single submitter clinical testing p.Gly177Gly in exon 4 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (11/10406) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs138865799).
Invitae RCV000641837 SCV000763487 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000827694 SCV000969352 likely benign not provided 2018-05-09 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.

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