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NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 13, 2021)
Last evaluated:
May 7, 2021
Accession:
VCV000867215.3
Variation ID:
867215
Description:
single nucleotide variant
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NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser)

Allele ID
855903
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212859006 (GRCh38) GRCh38 UCSC
1: 213032348 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213032348G>C
NC_000001.11:g.212859006G>C
NG_028131.1:g.5752G>C
NM_014053.4:c.554G>C MANE Select NP_054772.1:p.Cys185Ser missense
Protein change
C185S
Other names
-
Canonical SPDI
NC_000001.11:212859005:G:C
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
Uncertain significance 2 criteria provided, multiple submitters, no conflicts May 7, 2021 RCV001303824.2
Uncertain significance 1 criteria provided, single submitter Aug 2, 2019 RCV001075851.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Aug 02, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001241490.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001493084.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces cysteine with serine at codon 185 of the FLVCR1 protein (p.Cys185Ser). The cysteine residue is highly conserved and there is a … (more)
Uncertain significance
(May 07, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001880391.1
Submitted: (Sep 13, 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.

Record last updated Sep 23, 2021