ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.935_937del (p.Phe312del) (rs794728138)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181359 SCV000233660 uncertain significance not provided 2013-08-27 criteria provided, single submitter clinical testing c.935_937delTCT: p.Phe312del (F312del) in exon 7 of the DSP gene (NM_004415.2). The normal sequence with the bases that are deleted in braces is: GCCT{TCT}CCgt.The c.935_937delTCT variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The c.935_937delTCT variant results in an in-frame deletion of a Phenylalanine at codon 312 in the DSP gene. The c.935_937delTCT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. One in-frame deletion has been reported in association with ARVC as well as a missense mutation in a neighboring codon (Ser299Arg). With the clinical and molecular information available at this time, we cannot definitively determine if c.935_937delTCT is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).
Invitae RCV000706265 SCV000835305 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-02-18 criteria provided, single submitter clinical testing This variant, c.935_937delTCT, results in the deletion of 1 amino acid of the DSP protein (p.Phe312del), but otherwise preserves the integrity of the reading frame. 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: 199917). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000181359 SCV000925073 uncertain significance not provided no assertion criteria provided provider interpretation

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