ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) (rs763176756)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479691 SCV000573270 uncertain significance not provided 2017-02-07 criteria provided, single submitter clinical testing The c.1173delC variant in the TMEM237 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1173delC variant causes a frameshift starting with codon Serine 392, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Ser392GlnfsX26. This variant causes the last 17 amnio acids to be replaced with 25 incorrect amnio acids. The c.1173delC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1173delC as a variant of uncertain significance.
Invitae RCV001312784 SCV001503254 uncertain significance Joubert syndrome 14 2020-10-19 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TMEM237 gene (p.Ser392Glnfs*26). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the TMEM237 protein and extend the protein by 8 additional amino acid residues. This variant is present in population databases (rs763176756, ExAC 0.01%). This variant has not been reported in the literature in individuals with TMEM237-related conditions. ClinVar contains an entry for this variant (Variation ID: 423560). 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.

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