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NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 26, 2021)
Last evaluated:
Oct 12, 2020
Accession:
VCV001163061.1
Variation ID:
1163061
Description:
single nucleotide variant
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NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile)

Allele ID
1152535
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23336057 (GRCh38) GRCh38 UCSC
13: 23910196 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23910196G>T
NC_000013.11:g.23336057G>T
NM_014363.6:c.7819C>A MANE Select NP_055178.3:p.Leu2607Ile missense
... more HGVS
Protein change
L2460I, L2607I
Other names
-
Canonical SPDI
NC_000013.11:23336056:G: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 1 criteria provided, single submitter Oct 12, 2020 RCV001507819.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SACS - - GRCh38
GRCh37
1808 1900

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 12, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713620.1
Submitted: (May 26, 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 Jun 19, 2021