ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)

gnomAD frequency: 0.00002  dbSNP: rs775968168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266401 SCV001444575 uncertain significance Inborn genetic diseases 2016-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880115 SCV002310276 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 143 of the TMEM231 protein (p.Asn143Ser). This variant is present in population databases (rs775968168, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. ClinVar contains an entry for this variant (Variation ID: 985473). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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