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NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 15, 2021)
Last evaluated:
Jul 14, 2021
Accession:
VCV000989841.2
Variation ID:
989841
Description:
single nucleotide variant
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NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)

Allele ID
979657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72344111 (GRCh38) GRCh38 UCSC
15: 72636452 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72344111A>T
NC_000015.9:g.72636452A>T
NM_000520.6:c.1556T>A MANE Select NP_000511.2:p.Val519Glu missense
... more HGVS
Protein change
V519E, V530E
Other names
-
Canonical SPDI
NC_000015.10:72344110:A:T
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 2 criteria provided, single submitter Jul 14, 2021 RCV001277742.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HEXA - - GRCh38
GRCh37
484 511

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 14, 2021)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001786791.1
Submitted: (Aug 15, 2021)
Evidence details
Uncertain significance
(Apr 18, 2020)
no assertion criteria provided
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Natera, Inc.
Accession: SCV001464711.1
Submitted: (Dec 28, 2020)
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 Aug 18, 2021