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NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 25, 2017)
Accession:
VCV000446476.1
Variation ID:
446476
Description:
single nucleotide variant
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NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)

Allele ID
439932
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18p11.32
Genomic location
18: 2743806 (GRCh38) GRCh38 UCSC
18: 2743804 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.9:g.2743804G>C
NC_000018.10:g.2743806G>C
NC_000018.9:g.2743804G>C
... more HGVS
Protein change
G1227R
Other names
-
Canonical SPDI
NC_000018.10:2743805:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA401689493
dbSNP: rs1204021010
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000515687.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMCHD1 - - GRCh38
GRCh37
555 674

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Scapulohumeral muscular dystrophy
Allele origin: unknown
Institute of Human Genetics,University of Wuerzburg
Accession: SCV000611844.1
Submitted: (Aug 25, 2017)
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.

Text-mined citations for rs1204021010...

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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 24, 2021