ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.2021C>T (p.Thr674Ile)

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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 RCV005326888 SCV005998904 uncertain significance Inborn genetic diseases 2025-01-09 criteria provided, single submitter clinical testing The c.1946C>T (p.T649I) 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 1946, causing the threonine (T) at amino acid position 649 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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