ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)

dbSNP: rs138783896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204053 SCV000260210 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 expected to disrupt TMEM67 protein function. ClinVar contains an entry for this variant (Variation ID: 219997). This missense change has been observed in individual(s) with Joubert syndrome (PMID: 30455918; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 173 of the TMEM67 protein (p.Cys173Arg).
Molecular Biology Laboratory, Fundació Puigvert RCV001281327 SCV001425268 likely pathogenic Nephronophthisis 11 2020-02-01 criteria provided, single submitter research

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