ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.557G>A (p.Arg186Gln)

gnomAD frequency: 0.00004  dbSNP: rs148312916
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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 RCV001294523 SCV001483403 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2022-11-01 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CORO1A protein function. ClinVar contains an entry for this variant (Variation ID: 998636). This variant has not been reported in the literature in individuals affected with CORO1A-related conditions. This variant is present in population databases (rs148312916, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 186 of the CORO1A protein (p.Arg186Gln).
Ambry Genetics RCV004609725 SCV005103326 uncertain significance Inborn genetic diseases 2024-04-16 criteria provided, single submitter clinical testing The c.557G>A (p.R186Q) alteration is located in exon 5 (coding exon 4) of the CORO1A gene. This alteration results from a G to A substitution at nucleotide position 557, causing the arginine (R) at amino acid position 186 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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