ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00003  dbSNP: rs957203033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230848 SCV001403347 uncertain significance Joubert syndrome 14 2022-10-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TMEM237 mRNA. The next in-frame methionine is located at codon 206. This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 957799). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002241358 SCV002511584 uncertain significance not specified 2022-04-01 criteria provided, single submitter clinical testing Variant summary: TMEM237 c.1A>G (p.Met1Val) alters the initiation codon and is predicted to result either in absence of the protein or truncation of the encoded protein due to translation initiation at a downstream codon (next methionine is located at codon 206). Two of three in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 126266 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1A>G in individuals affected with Joubert Syndrome And Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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