ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.728A>G (p.His243Arg)

gnomAD frequency: 0.00001  dbSNP: rs2041098364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Biology and Genetics, University of Brescia RCV001290342 SCV001478261 pathogenic Autosomal recessive cutis laxa type 2B criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094347 SCV005837669 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 243 of the PYCR1 protein (p.His243Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with cutis laxa (PMID: 28499588). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 996065). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PYCR1 protein function with a negative predictive value of 80%. 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.

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