ClinVar Miner

Submissions for variant NM_001195129.2(PRSS56):c.219del (p.Arg74fs)

dbSNP: rs1218404300
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001807968 SCV002058295 pathogenic Isolated microphthalmia 6 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Patient’s phenotype is considered compatible with PRSS56-related disorder (PP4_P). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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