ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.40G>A (p.Val14Ile)

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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 RCV004954745 SCV005482770 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.40G>A (p.V14I) alteration is located in exon 1 (coding exon 1) of the PRPH2 gene. This alteration results from a G to A substitution at nucleotide position 40, causing the valine (V) at amino acid position 14 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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