ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1464+1G>A (rs398124545)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082654 SCV000114696 pathogenic not provided 2013-06-18 criteria provided, single submitter clinical testing
Counsyl RCV000671662 SCV000796657 likely pathogenic Mucopolysaccharidosis, MPS-III-C 2017-12-21 criteria provided, single submitter clinical testing
Invitae RCV001221115 SCV001393139 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-08-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14 of the HGSNAT gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs398124545, ExAC 0.001%). This variant has been observed in individuals affected with mucopolysaccharidosis type IIIC (PMID: 17397050, 28981474). ClinVar contains an entry for this variant (Variation ID: 96502). 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). For these reasons, this variant has been classified as Pathogenic.

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