NM_203290.4(POLR1C):c.502G>A (p.Val168Met) AND Hypomyelinating leukodystrophy 11

Germline classification:: Pathogenic (1 submission)
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:: RCV000788027.3

Allele description [Variation Report for NM_203290.4(POLR1C):c.502G>A (p.Val168Met)]

NM_203290.4(POLR1C):c.502G>A (p.Val168Met)

Gene:

POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_203290.4(POLR1C):c.502G>A (p.Val168Met)

HGVS:

NC_000006.12:g.43520185G>A
NG_028283.3:g.15484G>A
NM_001318876.2:c.502G>A
NM_001363658.2:c.502G>A
NM_203290.4:c.502G>AMANE SELECT
NP_001305805.1:p.Val168Met
NP_001350587.1:p.Val168Met
NP_976035.1:p.Val168Met
NC_000006.11:g.43487923G>A
NM_203290.3:c.502G>A

Protein change:

V168M

Links:

dbSNP: rs773388338

NCBI 1000 Genomes Browser:

rs773388338

Molecular consequence:

NM_001318876.2:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363658.2:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_203290.4:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypomyelinating leukodystrophy 11
Identifiers:: MONDO: MONDO:0014666; MedGen: C4225305; Orphanet: 88637; OMIM: 616494

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000924601	MyeliNeuroGene Lab, McGill University Health Center Research Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	research	PubMed (2) [See all records that cite these PMIDs] 610060, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924601

MyeliNeuroGene Lab, McGill University Health Center Research Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	no	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Epididymal sarcoidosis: a report of two cases and a review of the literature.

Gerstenhaber BJ, Green R, Sachs FL.

Yale J Biol Med. 1977 Nov-Dec;50(6):669-75.

PubMed [citation]

PMID:: 610060
PMCID:: PMC2595577

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From MyeliNeuroGene Lab, McGill University Health Center Research Institute, SCV000924601.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2023

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