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NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV001061367.1
Variation ID:
1061367
Description:
single nucleotide variant
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NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)

Allele ID
1052503
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53396580 (GRCh38) GRCh38 UCSC
X: 53423500 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773:g.31091T>C
LRG_773t1:c.2534T>C LRG_773p1:p.Met845Thr
NC_000023.10:g.53423500A>G
... more HGVS
Protein change
M845T, M867T
Other names
-
Canonical SPDI
NC_000023.11:53396579:A:G
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 8, 2020 RCV001370937.1
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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
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV001567485.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with threonine at codon 867 of the SMC1A protein (p.Met867Thr). The methionine 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.

Record last updated Oct 08, 2021