ClinVar Miner

Submissions for variant NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe)

gnomAD frequency: 0.00131  dbSNP: rs74703359
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000162039 SCV000939794 uncertain significance Isolated microphthalmia 6 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 302 of the PRSS56 protein (p.Val302Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. While this variant is present in population databases (rs74703359), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with non-syndromic nanophthalmos (PMID: 21850159). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 183171). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001723731 SCV002496650 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723731 SCV005188390 uncertain significance not provided criteria provided, single submitter not provided
OMIM RCV000162039 SCV000211984 pathogenic Isolated microphthalmia 6 2011-01-01 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723731 SCV001954809 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723731 SCV001975236 uncertain significance not provided no assertion criteria provided clinical testing

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