ClinVar Miner

Submissions for variant NM_000066.4(C8B):c.1438G>A (p.Ala480Thr)

gnomAD frequency: 0.00001  dbSNP: rs924523629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903719 SCV002176673 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 480 of the C8B protein (p.Ala480Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with C8B-related conditions. 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002478335 SCV002789096 uncertain significance Type II complement component 8 deficiency 2022-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289212 SCV003975484 uncertain significance Inborn genetic diseases 2023-05-10 criteria provided, single submitter clinical testing The c.1438G>A (p.A480T) alteration is located in exon 10 (coding exon 10) of the C8B gene. This alteration results from a G to A substitution at nucleotide position 1438, causing the alanine (A) at amino acid position 480 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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