ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)

gnomAD frequency: 0.00003  dbSNP: rs372775075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513829 SCV000610215 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857867 SCV002273330 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 128 of the TMEM231 protein (p.Pro128Ser). This variant is present in population databases (rs372775075, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. ClinVar contains an entry for this variant (Variation ID: 445642). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001857867 SCV002790765 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2022-01-17 criteria provided, single submitter clinical testing

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