ClinVar Miner

Submissions for variant NM_006929.5(SKIC2):c.2977dup (p.Met993fs)

dbSNP: rs1582187890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000850156 SCV000992344 likely pathogenic Trichohepatoenteric syndrome 2 2019-04-09 criteria provided, single submitter clinical testing SKIV2L c.2977dupA has not been reported in ClinVar nor the literature, to our knowledge. This variant is absent from large population datasets. This frameshift variant results in a premature stop codon in exon 25 of 28 likely leading to nonsense-mediated decay and lack of protein production. This variant is likely pathogenic in this patient.

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