ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) (rs765211666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667330 SCV000791763 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000793614 SCV000932976 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-03-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 113 of the HGSNAT protein (p.Leu113Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs765211666, ExAC 0.004%). This variant has been observed to be homozygous in two siblings affected with mucopolysaccharidosis type IIIC (PMID: 20825431). ClinVar contains an entry for this variant (Variation ID: 552118). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). 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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