ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) (rs961025173)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664960 SCV000789005 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV000688535 SCV000816152 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-05-06 criteria provided, single submitter clinical testing This variant, c.34_54dup, results in the insertion of 7 amino acids to the HGSNAT protein (p.Leu12_Leu18dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with HGSNAT-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780341 SCV000917524 uncertain significance not specified 2018-05-14 criteria provided, single submitter clinical testing Variant summary: HGSNAT c.34_54dup21 (p.Leu12_Leu18dup) results in an in-frame insertion that is predicted to insert 7 amino acids into the encoded protein. The variant allele was found at a frequency of 7.5e-05 in 26610 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in HGSNAT causing Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome C) (7.5e-05 vs 0.001), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.34_54dup21 in individuals affected with Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome C) and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000664960 SCV001456794 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-01-17 no assertion criteria provided clinical testing

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