ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)

gnomAD frequency: 0.00010  dbSNP: rs1025643467
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244177 SCV001417380 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 11 of the HGSNAT protein (p.Leu11Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HGSNAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 968935). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HGSNAT protein function. 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.
Ambry Genetics RCV002568577 SCV003687040 uncertain significance Inborn genetic diseases 2021-01-08 criteria provided, single submitter clinical testing The c.32T>C (p.L11P) alteration is located in exon 1 (coding exon 1) of the HGSNAT gene. This alteration results from a T to C substitution at nucleotide position 32, causing the leucine (L) at amino acid position 11 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481024 SCV004224173 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001829921 SCV002083267 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-04-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751938 SCV005358374 uncertain significance HGSNAT-related disorder 2024-09-09 no assertion criteria provided clinical testing The HGSNAT c.32T>C variant is predicted to result in the amino acid substitution p.Leu11Pro. To our knowledge, this variant has not been reported in the literature or in gnomAD, indicating that it is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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