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NM_004415.4(DSP):c.1112A>C (p.His371Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Nov 24, 2016
Accession:
VCV000044851.1
Variation ID:
44851
Description:
single nucleotide variant
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NM_004415.4(DSP):c.1112A>C (p.His371Pro)

Allele ID
54018
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7567421 (GRCh38) GRCh38 UCSC
6: 7567654 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.7567654A>C
NC_000006.12:g.7567421A>C
NM_001008844.3:c.1112A>C NP_001008844.1:p.His371Pro missense
... more HGVS
Protein change
H371P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA004777
dbSNP: rs397516912
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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 Mar 22, 2012 RCV000037984.2
Uncertain significance 1 criteria provided, single submitter Nov 24, 2016 RCV000464608.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSP Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1370 1406

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 24, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy with woolly hair and keratoderma
Arrhythmogenic right ventricular cardiomyopathy, type 8
Allele origin: germline
Invitae
Accession: SCV000543245.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces histidine with proline at codon 371 of the DSP protein (p.His371Pro). The histidine residue is highly conserved and there is a ... (more)
Uncertain significance
(Mar 22, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061650.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The His371Pro variant (DSP) has not been reported in the literature nor previous ly identified by our laboratory. Variants in DSP have been reported in ... (more)

Citations for this variant

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 Jan 18, 2020