ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.273+3A>G

gnomAD frequency: 0.00001  dbSNP: rs794728107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181271 SCV000233560 likely benign not provided 2022-05-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Color Diagnostics, LLC DBA Color Health RCV001189662 SCV001356993 likely benign Cardiomyopathy 2019-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852266 SCV002301531 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-13 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the DSP gene. It does not directly change the encoded amino acid sequence of the DSP protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with clinical features of DSP-related conditions (PMID: 34352074). ClinVar contains an entry for this variant (Variation ID: 199848). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
All of Us Research Program, National Institutes of Health RCV003996638 SCV004830579 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020189 SCV005022393 uncertain significance Cardiovascular phenotype 2023-10-12 criteria provided, single submitter clinical testing The c.273+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 2 in the DSP gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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