ClinVar Miner

Submissions for variant NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter)

gnomAD frequency: 0.00010  dbSNP: rs201784173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814814 SCV002061645 likely pathogenic Hypomyelinating leukodystrophy 10 2021-10-29 criteria provided, single submitter clinical testing PVS1, PM2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001814814 SCV003808076 likely pathogenic Hypomyelinating leukodystrophy 10 2023-01-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV005095231 SCV005818644 pathogenic not provided 2024-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln226*) in the PYCR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYCR2 are known to be pathogenic (PMID: 25865492, 27860360). This variant is present in population databases (rs201784173, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PYCR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1334633). For these reasons, this variant has been classified as Pathogenic.

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