ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.107G>C (p.Gly36Ala)

gnomAD frequency: 0.00008  dbSNP: rs778506459
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486571 SCV000570301 uncertain significance not provided 2021-01-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 421184; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Color Diagnostics, LLC DBA Color Health RCV001176566 SCV001340586 uncertain significance Cardiomyopathy 2023-04-25 criteria provided, single submitter clinical testing This missense variant replaces glycine with alanine at codon 36 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in an individual affected with dilated cardiomyopathy, who also carried a pathogenic variant in the TTN gene (PMID: 34935411). This variant has been identified in 7/219058 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001207737 SCV001379102 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420230 SCV002725971 uncertain significance Cardiovascular phenotype 2022-03-07 criteria provided, single submitter clinical testing The p.G36A variant (also known as c.107G>C), located in coding exon 1 of the DSP gene, results from a G to C substitution at nucleotide position 107. The glycine at codon 36 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224296 SCV003919892 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-03-30 criteria provided, single submitter clinical testing DSP NM_004415.3 exon 1 p.Gly36Ala (c.107G>C): This variant has not been reported in the literature and is present in 0.03% (6/19378) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/6-7542255-G-C). This variant is present in ClinVar (Variation ID:421184). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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