ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)

gnomAD frequency: 0.00002  dbSNP: rs794728120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181313 SCV000233607 uncertain significance not provided 2020-03-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000253679 SCV000320517 uncertain significance Cardiovascular phenotype 2015-11-07 criteria provided, single submitter clinical testing The p.I1221V variant (also known as c.3661A>G), located in coding exon 23 of the DSP gene, results from an A to G substitution at nucleotide position 3661. The isoleucine at codon 1221 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in two species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000253679 SCV001433089 uncertain significance Cardiovascular phenotype 2025-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516831 SCV003518938 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-01 criteria provided, single submitter clinical testing

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