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NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 25, 2018
Accession:
VCV000665368.1
Variation ID:
665368
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe)

Allele ID
650123
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53380627 (GRCh38) GRCh38 UCSC
X: 53407548 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773t1:c.3545A>T LRG_773p1:p.Tyr1182Phe
LRG_773:g.47044A>T
NC_000023.10:g.53407548T>A
... more HGVS
Protein change
Y1182F, Y1204F
Other names
-
Canonical SPDI
NC_000023.11:53380626:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs781998306
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 Dec 25, 2018 RCV000823634.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMC1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
453 610

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 25, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV000964499.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces tyrosine with phenylalanine at codon 1204 of the SMC1A protein (p.Tyr1204Phe). The tyrosine residue is moderately conserved and there is a … (more)

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.

Text-mined citations for rs781998306...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021