ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.422A>C (p.Tyr141Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SingHealth Duke-NUS Institute of Precision Medicine RCV005235864 SCV005881518 likely pathogenic Patterned macular dystrophy 1 2025-02-05 criteria provided, single submitter clinical testing Variant is not found in gnomAD exomes or genomes (PM2). REVEL score is 0.879 (PP3_mod). Other variants on this amino acid residue are classified as pathogenic (c.422A>G, c.421T>G, c.421T>C, PM5). Variant is located ina mutational hotspot where >50% of variants are pathogenic (PM1)

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