ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) (rs1563386838)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706600 SCV000835660 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2018-05-16 criteria provided, single submitter clinical testing This sequence change replaces valine with arginine at codon 563 of the HGSNAT protein (p.Val563Arg). The valine residue is highly conserved. This variant is reported as two separate single-nucleotide changes in population databases (c.1687G>A, ExAC 0.002% and c.1688T>G, ExAC 0.002%). However, in the read data for all individuals displayed in the ExAC browser, these two variants are in cis. This recapitulates the variant observed here (c.1687_1688delinsAG) and indicates that this variant is very likely present in the population databases at 0.002%. This variant has not been reported in the literature in individuals with HGSNAT-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, 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. 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.

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