ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1344G>A (p.Leu448=) (rs138226280)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181255 SCV000233535 benign not specified 2014-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000227634 SCV000288525 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621322 SCV000736836 likely benign Cardiovascular phenotype 2017-02-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771824 SCV000904530 likely benign Cardiomyopathy 2018-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001162536 SCV001324492 uncertain significance Skin fragility-woolly hair-palmoplantar keratoderma syndrome 2019-02-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001164569 SCV001326702 uncertain significance Lethal acantholytic epidermolysis bullosa 2019-02-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001164570 SCV001326703 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-02-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000181255 SCV001365491 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu448Leu in Exon 11 of DSP: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.1% (6/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs138226280).

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