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NM_015295.2(SMCHD1):c.1479T>C (p.Thr493=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Aug 16, 2018
Accession:
VCV000498276.2
Variation ID:
498276
Description:
single nucleotide variant
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NM_015295.2(SMCHD1):c.1479T>C (p.Thr493=)

Allele ID
489700
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18p11.32
Genomic location
18: 2700750 (GRCh38) GRCh38 UCSC
18: 2700748 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.2700750T>C
NC_000018.9:g.2700748T>C
NM_015295.2:c.1479T>C NP_056110.2:p.Thr493= synonymous
NG_031972.1:g.49863T>C
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA8870746
dbSNP: rs755868793
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 16, 2018 RCV000595487.2
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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
338 442

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 03, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000703212.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Likely benign
(Aug 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001018932.1
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SMCHD1 - - - -

Record last updated Dec 17, 2019