ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.1188+1G>T

dbSNP: rs760206323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409868 SCV000486422 likely pathogenic Alkaptonuria 2016-05-26 criteria provided, single submitter clinical testing
Invitae RCV000409868 SCV001579932 pathogenic Alkaptonuria 2020-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the HGD protein. Other variant(s) that disrupt this region (p.Lys431Hisfs*11) have been determined to be pathogenic (PMID: 23430897, 25681086, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with alkaptonuria (PMID: 11001939). ClinVar contains an entry for this variant (Variation ID: 370979). This variant is present in population databases (rs760206323, ExAC 0.005%). This sequence change affects a donor splice site in the last intron (intron 13) of the HGD gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000409868 SCV004098960 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:11001939. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00101).

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