ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)

gnomAD frequency: 0.00012  dbSNP: rs372018476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369358 SCV001565794 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 260 of the TMEM231 protein (p.Asp260Glu). This variant is present in population databases (rs372018476, gnomAD 0.05%). 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: 1059988). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
New York Genome Center RCV001369358 SCV002548612 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2021-06-04 criteria provided, single submitter clinical testing

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