NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg) AND Retinal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 29, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001074309.2

Allele description [Variation Report for NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg)]

NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg)

Gene:

RP1L1:RP1 like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

Preferred name:

NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg)

HGVS:

NC_000008.11:g.10622601C>T
NG_028035.1:g.37507G>A
NM_178857.6:c.601G>AMANE SELECT
NP_849188.4:p.Gly201Arg
NC_000008.10:g.10480111C>T
NC_000008.10:g.10480111C>T
NM_178857.5:c.601G>A

Protein change:

G201R

Links:

dbSNP: rs767784152

NCBI 1000 Genomes Browser:

rs767784152

Molecular consequence:

NM_178857.6:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

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Microcardium velatum voucher IM 200732277 16S ribosomal RNA gene, partial sequen...
Microcardium velatum voucher IM 200732277 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|924864552|gb|KR422978.1|

Nucleotide
Zea mays full-length cDNA clone ZM_BFc0170E21 mRNA, complete cds
Zea mays full-length cDNA clone ZM_BFc0170E21 mRNA, complete cds
gi|194690683|gnl|arizona|ZM_BFc0170 b|BT034421.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239882	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Jun 29, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239882

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Jun 29, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV001239882.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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