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NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Oct 4, 2021)
Last evaluated:
Aug 1, 2021
Accession:
VCV000994874.2
Variation ID:
994874
Description:
single nucleotide variant
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NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)

Allele ID
982379
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212872816 (GRCh38) GRCh38 UCSC
1: 213046158 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213046158A>G
NC_000001.11:g.212872816A>G
NG_028131.1:g.19562A>G
NM_014053.4:c.1022A>G MANE Select NP_054772.1:p.Tyr341Cys missense
Protein change
Y341C
Other names
-
Canonical SPDI
NC_000001.11:212872815:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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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 1, 2021 RCV001288601.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLVCR1 - - GRCh38
GRCh37
300 324

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475852.1
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Aug 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001961162.1
Submitted: (Oct 04, 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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Title Author Journal Year Link
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland. Whelan L Genes 2020 PMID: 31963381
A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa. Dockery A Advances in experimental medicine and biology 2019 PMID: 31884612

Record last updated Oct 08, 2021