ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.104T>A (p.Phe35Tyr)

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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 RCV004507581 SCV005012705 uncertain significance Inborn genetic diseases 2024-01-25 criteria provided, single submitter clinical testing The c.104T>A (p.F35Y) alteration is located in exon 1 (coding exon 1) of the PRPH2 gene. This alteration results from a T to A substitution at nucleotide position 104, causing the phenylalanine (F) at amino acid position 35 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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