ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1766A>T (p.His589Leu)

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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 RCV005264994 SCV005929535 uncertain significance not specified 2025-02-08 criteria provided, single submitter clinical testing The c.1766A>T (p.H589L) alteration is located in exon 8 (coding exon 7) of the PRICKLE1 gene. This alteration results from a A to T substitution at nucleotide position 1766, causing the histidine (H) at amino acid position 589 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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