ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.76G>T (p.Ala26Ser)

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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 RCV005325385 SCV005986094 uncertain significance Inborn genetic diseases 2025-01-21 criteria provided, single submitter clinical testing The c.76G>T (p.A26S) alteration is located in exon 1 (coding exon 1) of the DCLRE1C gene. This alteration results from a G to T substitution at nucleotide position 76, causing the alanine (A) at amino acid position 26 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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