ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe)

gnomAD frequency: 0.00001  dbSNP: rs767581950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254109 SCV001430039 likely pathogenic Autosomal recessive cutis laxa type 2B 2020-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570554 SCV003312161 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing 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. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 252 of the PYCR1 protein (p.Ser252Phe). This variant is present in population databases (rs767581950, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PYCR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 976724). 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.

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