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NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 5, 2021)
Last evaluated:
Jul 25, 2020
Accession:
VCV000852014.2
Variation ID:
852014
Description:
single nucleotide variant
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NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)

Allele ID
834789
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.21
Genomic location
8: 43191573 (GRCh38) GRCh38 UCSC
8: 43046716 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.43046716C>A
NC_000008.11:g.43191573C>A
NG_009552.1:g.56125C>A
... more HGVS
Protein change
L346M, L410M, L122M
Other names
-
Canonical SPDI
NC_000008.11:43191572:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 7, 2020 RCV001056545.1
Uncertain significance 1 criteria provided, single submitter Jul 25, 2020 RCV001291802.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HGSNAT - - GRCh38
GRCh37
529 590

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 07, 2020)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Allele origin: germline
Invitae
Accession: SCV001220994.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces leucine with methionine at codon 410 of the HGSNAT protein (p.Leu410Met). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Jul 25, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-C
(Autosomal recessive inheritance)
Allele origin: germline
New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001480423.1
Submitted: (Feb 05, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021