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NM_001206927.2(DNAH8):c.4610G>T (p.Arg1537Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 26, 2021)
Last evaluated:
Oct 2, 2019
Accession:
VCV000525217.5
Variation ID:
525217
Description:
single nucleotide variant
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NM_001206927.2(DNAH8):c.4610G>T (p.Arg1537Leu)

Allele ID
521640
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.2
Genomic location
6: 38842668 (GRCh38) GRCh38 UCSC
6: 38810444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.38810444G>T
NC_000006.12:g.38842668G>T
NM_001206927.2:c.4610G>T MANE Select NP_001193856.1:p.Arg1537Leu missense
... more HGVS
Protein change
R1537L, R1320L
Other names
-
Canonical SPDI
NC_000006.12:38842667:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA3789181
dbSNP: rs375507271
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 2, 2019 RCV000629265.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH8 - - GRCh38
GRCh37
775 969

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 02, 2019)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000750200.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with leucine at codon 1537 of the DNAH8 protein (p.Arg1537Leu). The arginine residue is moderately conserved and there is a … (more)
Uncertain significance
(Oct 12, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
Accession: SCV001431754.2
Submitted: (Aug 26, 2021)
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 rs375507271...

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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 Aug 27, 2021