ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)

gnomAD frequency: 0.00007  dbSNP: rs281875318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267329 SCV001445510 pathogenic Inborn genetic diseases 2018-01-03 criteria provided, single submitter clinical testing
Invitae RCV000059740 SCV002216897 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 257 of the PYCR1 protein (p.Ala257Thr). This variant is present in population databases (rs281875318, gnomAD 0.01%). This missense change has been observed in individuals with cutis laxa (PMID: 19648921, 30450527). ClinVar contains an entry for this variant (Variation ID: 29863). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PYCR1 protein function. 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.
OMIM RCV000022742 SCV000044031 pathogenic PYCR1-related de Barsy syndrome 2009-09-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059740 SCV000091310 not provided not provided no assertion provided not provided
University of Washington Center for Mendelian Genomics, University of Washington RCV001291253 SCV001479678 likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome no assertion criteria provided research

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