ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)

dbSNP: rs767159114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409498 SCV000487100 likely pathogenic Alkaptonuria 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000409498 SCV002231322 pathogenic Alkaptonuria 2021-02-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 been observed in individual(s) with alkaptonuria (PMID: 14978662, 25804398, 19862842). ClinVar contains an entry for this variant (Variation ID: 371502). This variant is present in population databases (rs767159114, ExAC 0.001%). This sequence change replaces glutamic acid with glutamine at codon 401 of the HGD protein (p.Glu401Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine.
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000409498 SCV004100976 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:14978662. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00102).

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