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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
Fulgent Genetics, Fulgent Genetics RCV001230848 SCV005654505 likely pathogenic Joubert syndrome 14 2024-01-12 criteria provided, single submitter clinical testing

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