ClinVar Miner

Submissions for variant NM_007214.5(SEC63):c.646A>G (p.Ile216Val)

dbSNP: rs2114454091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003163785 SCV003906808 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.646A>G (p.I216V) alteration is located in exon 8 (coding exon 8) of the SEC63 gene. This alteration results from a A to G substitution at nucleotide position 646, causing the isoleucine (I) at amino acid position 216 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844950 SCV001876883 likely pathogenic Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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