ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.658A>C (p.Asn220His)

gnomAD frequency: 0.00001  dbSNP: rs755082816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877739 SCV002138517 uncertain significance Fucosidosis 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 220 of the FUCA1 protein (p.Asn220His). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and histidine. This variant is present in population databases (rs755082816, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FUCA1-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.

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