ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) (rs794728120)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181313 SCV000233607 uncertain significance not provided 2014-07-07 criteria provided, single submitter clinical testing p.Ile1221Val (ATC>GTC): c.3661 A>G in exon 23 of the DSP gene (NM_004415.2). The I1221V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The I1221V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across most species. However, I1221V is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis predicts this variant likely does not alter the protein structure/function. Additionally, missense mutations in nearby residues have not been reported, indicating this region of the protein may tolerate change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).
Ambry Genetics RCV000253679 SCV000320517 uncertain significance Cardiovascular phenotype 2015-11-07 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256690 SCV001433089 uncertain significance Dilated cardiomyopathy 1A 2019-02-01 criteria provided, single submitter clinical testing

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