ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)

gnomAD frequency: 0.00001  dbSNP: rs1209527419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369230 SCV001565662 uncertain significance Joubert syndrome 14 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 293 of the TMEM237 protein (p.Phe293Cys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TMEM237-related conditions. ClinVar contains an entry for this variant (Variation ID: 1059870). 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. 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.
Ambry Genetics RCV002548618 SCV003551258 uncertain significance Inborn genetic diseases 2022-06-30 criteria provided, single submitter clinical testing The c.878T>G (p.F293C) alteration is located in exon 10 (coding exon 10) of the TMEM237 gene. This alteration results from a T to G substitution at nucleotide position 878, causing the phenylalanine (F) at amino acid position 293 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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