Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241394 | SCV001414408 | uncertain significance | Joubert syndrome 14 | 2022-02-23 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 966661). This variant has not been reported in the literature in individuals affected with TMEM237-related conditions. This variant is present in population databases (rs374042611, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 196 of the TMEM237 protein (p.Ile196Met). |
Ambry Genetics | RCV002563998 | SCV003704332 | uncertain significance | Inborn genetic diseases | 2022-06-14 | criteria provided, single submitter | clinical testing | The c.588A>G (p.I196M) alteration is located in exon 8 (coding exon 8) of the TMEM237 gene. This alteration results from a A to G substitution at nucleotide position 588, causing the isoleucine (I) at amino acid position 196 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |