ClinVar Miner

Submissions for variant NC_000012.12:g.121641318T>C

gnomAD frequency: 0.00004  dbSNP: rs782753385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002517660 SCV003479335 likely pathogenic Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2022-01-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 194 of the ORAI1 protein (p.Leu194Pro). This variant is present in population databases (rs782753385, gnomAD 0.005%). This missense change has been observed in individuals with autosomal recessive ORAI1 deficiency (PMID: 20004786, 27066545, 29155098). ClinVar contains an entry for this variant (Variation ID: 192288). Studies have shown that this missense change alters ORAI1 gene expression (PMID: 20004786). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000172860 SCV000223836 pathogenic Combined immunodeficiency due to ORAI1 deficiency 2009-12-01 no assertion criteria provided literature only

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