ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1892G>A (p.Arg631His)

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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 RCV004974714 SCV005576437 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.1817G>A (p.R606H) alteration is located in exon 15 (coding exon 15) of the DVL1 gene. This alteration results from a G to A substitution at nucleotide position 1817, causing the arginine (R) at amino acid position 606 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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