ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.647T>C (p.Ile216Thr)

dbSNP: rs1794440472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332700 SCV001525090 uncertain significance Congenital bile acid synthesis defect 2 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546592 SCV003622901 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.647T>C (p.I216T) alteration is located in exon 6 (coding exon 6) of the AKR1D1 gene. This alteration results from a T to C substitution at nucleotide position 647, causing the isoleucine (I) at amino acid position 216 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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