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NM_014989.5(RIMS1):c.1382C>T (p.Ala461Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 2, 2019
Accession:
VCV000357838.4
Variation ID:
357838
Description:
single nucleotide variant
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NM_014989.5(RIMS1):c.1382C>T (p.Ala461Val)

Allele ID
303928
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q13
Genomic location
6: 72182853 (GRCh38) GRCh38 UCSC
6: 72892556 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.72892556C>T
NC_000006.12:g.72182853C>T
NG_016209.1:g.300907C>T
NM_014989.5:c.1382C>T NP_055804.2:p.Ala461Val missense
Protein change
A461V
Other names
-
Canonical SPDI
NC_000006.12:72182852:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10624560
dbSNP: rs886061706
Varsome
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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 Jun 14, 2016 RCV000370778.2
Uncertain significance 1 criteria provided, single submitter Oct 2, 2019 RCV001205892.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RIMS1 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
485 497

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cone-Rod Dystrophy, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464656.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Oct 02, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001377173.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 461 of the RIMS1 protein (p.Ala461Val). The alanine residue is weakly conserved and there is a … (more)

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 rs886061706...

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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 Sep 29, 2021