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NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) AND Usher syndrome type 1G

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001123313.4

Allele description [Variation Report for NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)]

NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)

Gene:
USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
HGVS:
  • NC_000017.11:g.74919578G>C
  • NG_007882.2:g.8686C>G
  • NG_033062.2:g.304G>C
  • NM_001282489.3:c.949C>G
  • NM_173477.5:c.1258C>GMANE SELECT
  • NP_001269418.1:p.Leu317Val
  • NP_775748.2:p.Leu420Val
  • LRG_1416t1:c.1258C>G
  • LRG_1416:g.8686C>G
  • LRG_1416p1:p.Leu420Val
  • NC_000017.10:g.72915673G>C
  • NG_033062.1:g.304G>C
  • NM_173477.2:c.1258C>G
  • NM_173477.4:c.1258C>G
  • c.1258C>G
Protein change:
L317V
Links:
dbSNP: rs139897506
NCBI 1000 Genomes Browser:
rs139897506
Molecular consequence:
  • NM_001282489.3:c.949C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173477.5:c.1258C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1G
Synonyms:
USHER SYNDROME, TYPE IG, MILD
Identifiers:
MONDO: MONDO:0011748; MedGen: C1847089; Orphanet: 231169; Orphanet: 886; OMIM: 606943

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001282137Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.

Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.

PubMed [citation]
PMID:
23591405
PMCID:
PMC3865404

Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.

Branson SV, McClintic JI, Stamper TH, Haldeman-Englert CR, John VJ.

Ophthalmic Surg Lasers Imaging Retina. 2016 Feb;47(2):183-6. doi: 10.3928/23258160-20160126-14.

PubMed [citation]
PMID:
26878454

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001282137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024