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NM_001281463.1(SMC1A):c.221G>C (p.Arg74Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Feb 16, 2018
Accession:
VCV000596194.1
Variation ID:
596194
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.221G>C (p.Arg74Pro)

Allele ID
587255
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53414992 (GRCh38) GRCh38 UCSC
X: 53441941 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.53441941C>G
NC_000023.11:g.53414992C>G
NM_001281463.1:c.221G>C NP_001268392.1:p.Arg74Pro missense
... more HGVS
Protein change
R74P, R96P
Other names
-
Canonical SPDI
NC_000023.11:53414991:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (T)

Allele frequency
-
Links
dbSNP: rs781817340
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 criteria provided, single submitter Feb 16, 2018 RCV000731943.1
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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
Likely pathogenic
(Feb 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000859815.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SMC1A - - - -

Text-mined citations for rs781817340...

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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 30, 2020