ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu) (rs746875137)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320247 SCV001511027 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-03-20 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 481 of the HGSNAT protein (p.Val481Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs746875137, ExAC 0.01%). This variant has been observed in individual(s) with clinical features of HGSNAT-related conditions (PMID: 19479962). This variant has been reported to affect HGSNAT protein function (PMID: 19823584, 20583299). 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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