ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1925A>G (p.Asn642Ser)

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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 RCV004981653 SCV005563242 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.1925A>G (p.N642S) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a A to G substitution at nucleotide position 1925, causing the asparagine (N) at amino acid position 642 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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