ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.512_516del (p.Leu171fs)

dbSNP: rs1568105371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709722 SCV000839950 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2017-07-31 criteria provided, single submitter clinical testing This variant causes a shift in reading frame starting at leucine 171, changing it to a cysteine, and creating a premature stop codon at position 16 of the new reading frame. Loss of function could be the mechanism for DSG2 protein (PMID23911551, 23381804) also see HGMD for reported nonsense variants and frameshifting variants after Leu171. Thus, this variant has been classified as likely pathogenic.
Invitae RCV000709722 SCV000933247 pathogenic Arrhythmogenic right ventricular dysplasia 10 2021-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551). This variant has not been reported in the literature in individuals with DSG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu171Cysfs*16) in the DSG2 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002499279 SCV002787303 likely pathogenic Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-10-26 criteria provided, single submitter clinical testing

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