ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.2014C>T (p.Arg672Cys)

gnomAD frequency: 0.00006  dbSNP: rs777009012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198589 SCV001369579 likely pathogenic CODAS syndrome 2019-07-17 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP1-M,PP3.
Invitae RCV001863129 SCV002301671 uncertain significance not provided 2023-09-04 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 931723). This missense change has been observed in individual(s) with clinical features of CODAS syndrome (PMID: 25808063, 27878435). This variant is present in population databases (rs777009012, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 672 of the LONP1 protein (p.Arg672Cys).
CeGaT Center for Human Genetics Tuebingen RCV001863129 SCV004146375 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing LONP1: PM2

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