ClinVar Miner

Submissions for variant NM_005450.6(NOG):c.104C>G (p.Pro35Arg)

dbSNP: rs104894611
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512863 SCV003443214 pathogenic not provided 2022-04-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects NOG function (PMID: 17668388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 6697). This missense change has been observed in individual(s) with NOG-related symphalangism spectrum disorder (PMID: 10080184, 11545688). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 35 of the NOG protein (p.Pro35Arg).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000049267 SCV004100904 pathogenic Proximal symphalangism 1A 2023-11-06 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000007085 SCV005417020 likely pathogenic Tarsal-carpal coalition syndrome criteria provided, single submitter clinical testing PM2_Supporting+PS3_Moderate+PS4_Supporting+PP1+PM6_Supporting+PP4
OMIM RCV000007085 SCV000027281 pathogenic Tarsal-carpal coalition syndrome 2001-09-01 no assertion criteria provided literature only
OMIM RCV000049267 SCV000077523 pathogenic Proximal symphalangism 1A 2001-09-01 no assertion criteria provided literature only

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