ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)

dbSNP: rs1687222402
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057786 SCV001222298 uncertain significance Joubert syndrome 14 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 104 of the TMEM237 protein (p.Ser104Asn). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 853048). This variant has not been reported in the literature in individuals affected with TMEM237-related conditions.

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