ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.515G>C (p.Arg172Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004981651 SCV005563240 uncertain significance Inborn genetic diseases 2024-09-01 criteria provided, single submitter clinical testing The c.515G>C (p.R172T) alteration is located in exon 7 (coding exon 7) of the DCLRE1C gene. This alteration results from a G to C substitution at nucleotide position 515, causing the arginine (R) at amino acid position 172 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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