ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.878T>C (p.Leu293Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005252241 SCV005904237 uncertain significance Retinitis pigmentosa 54 2023-06-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Predicted Consequence/Location: Protein truncation variants are a common disease-causing mechanism. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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