ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.447T>A (p.Asn149Lys)

dbSNP: rs2107513499
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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 RCV001969541 SCV002264331 uncertain significance Alkaptonuria 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 149 of the HGD protein (p.Asn149Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of alkaptonuria (PMID: 19862842). 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. 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.
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001969541 SCV004101012 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:19862842. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00040).

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