Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 9, 2020
Accession:
VCV001068123.1
Variation ID:
1068123
Description:
single nucleotide variant
Help

NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)

Allele ID
1056799
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53382325 (GRCh38) GRCh38 UCSC
X: 53409246 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773:g.45346G>T
LRG_773t1:c.3278G>T LRG_773p1:p.Cys1093Phe
NC_000023.10:g.53409246C>A
... more HGVS
Protein change
C1093F, C1115F
Other names
-
Canonical SPDI
NC_000023.11:53382324:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 9, 2020 RCV001379576.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 09, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV001577400.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces cysteine with phenylalanine at codon 1115 of the SMC1A protein (p.Cys1115Phe). The cysteine residue is moderately conserved and there is a … (more)

Functional evidence

Help
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

Help
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