ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.2059C>T (p.Pro687Ser)

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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 RCV005326887 SCV005998903 uncertain significance Inborn genetic diseases 2025-01-29 criteria provided, single submitter clinical testing The c.1984C>T (p.P662S) alteration is located in exon 15 (coding exon 15) of the DVL1 gene. This alteration results from a C to T substitution at nucleotide position 1984, causing the proline (P) at amino acid position 662 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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