ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.899T>G (p.Val300Gly)

dbSNP: rs120074170
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003316 SCV000485141 likely pathogenic Alkaptonuria 2015-12-18 criteria provided, single submitter clinical testing
Invitae RCV000003316 SCV000833062 pathogenic Alkaptonuria 2023-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 expected to disrupt HGD protein function. ClinVar contains an entry for this variant (Variation ID: 3166). This missense change has been observed in individuals with alkaptonuria (PMID: 8782815, 9529363, 10482952, 10970188, 19862842, 21720873). It is commonly reported in individuals of Central European ancestry (PMID: 9529363, 21720873). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 300 of the HGD protein (p.Val300Gly).
OMIM RCV000003316 SCV000023474 pathogenic Alkaptonuria 1996-09-01 no assertion criteria provided literature only
GeneReviews RCV000003316 SCV000086749 not provided Alkaptonuria no assertion provided literature only Frequent missense variant
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000003316 SCV004100991 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:8782815. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00083).

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