ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091760 SCV001247966 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266402 SCV001444576 uncertain significance Inborn genetic diseases 2016-07-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335605 SCV001528790 uncertain significance Joubert syndrome 20 2018-12-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001382651 SCV001581534 pathogenic Joubert syndrome 20; Meckel syndrome, type 11 2020-10-02 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 178 of the TMEM231 protein (p.Pro178Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with Joubert syndrome and related disorders (PMID: 25869670, 26489029). It has also been observed to segregate with disease in related individuals. This variant is also known as c.373C>G p.Pro125Ala in the literature. ClinVar contains an entry for this variant (Variation ID: 871667). This variant has been reported to affect TMEM231 protein function (PMID: 25869670). For these reasons, this variant has been classified as Pathogenic.

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