ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.877C>T (p.Arg293Trp)

gnomAD frequency: 0.00001  dbSNP: rs1262973323
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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 RCV001373560 SCV001570280 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2020-04-20 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CORO1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 293 of the CORO1A protein (p.Arg293Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Ambry Genetics RCV004037576 SCV004850522 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.877C>T (p.R293W) alteration is located in exon 8 (coding exon 7) of the CORO1A gene. This alteration results from a C to T substitution at nucleotide position 877, causing the arginine (R) at amino acid position 293 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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