ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) (rs562015789)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000272334 SCV000465138 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308765 SCV000465139 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363339 SCV000465140 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268654 SCV000465141 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477512 SCV000555770 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000481903 SCV000568983 uncertain significance not provided 2018-05-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The N1865Y variant has been reported in one individual out of a cohort of 427 unrelated healthy controls from various racial and ethnic backgrounds (Kapplinger et al., 2011). The N1865Y variant is observed in 109/277222 (0.04%) alleles from individuals of multiple ethnic backgrounds, including one homozygous individual, in large population cohorts indicating it may be a rare benign variant (Lek et al., 2016). Nonetheless, the N1865Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000481903 SCV000885323 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing The p.Asn1865Tyr variant (rs562015789) was reported in one individual from a healthy cohort of 427 subjects of various ethnic backgrounds (Kapplinger 211). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.3 percent in the South Asian population (identified on 99 out of 30,782 chromosomes, including 1 homozygote), and has been reported to the ClinVar database (Variation ID: 357959). The asparagine at position 1865 is moderately conserved considering 12 species (Alamut v2.11) and computational analyses of the p.Asn1865Tyr variant on protein structure and function indicates a deleterious effect (SIFT: damaging, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Asn1865Tyr variant with certainty.
Color RCV000771806 SCV000904507 likely benign Cardiomyopathy 2018-10-10 criteria provided, single submitter clinical testing

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