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NM_001292063.2(OTOG):c.472C>A (p.Leu158Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 2024
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:
RCV004527248.2

Allele description [Variation Report for NM_001292063.2(OTOG):c.472C>A (p.Leu158Ile)]

NM_001292063.2(OTOG):c.472C>A (p.Leu158Ile)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.472C>A (p.Leu158Ile)
HGVS:
  • NC_000011.10:g.17553451C>A
  • NG_033191.2:g.11079C>A
  • NM_001277269.2:c.508C>A
  • NM_001292063.2:c.472C>AMANE SELECT
  • NP_001264198.1:p.Leu170Ile
  • NP_001278992.1:p.Leu158Ile
  • NC_000011.9:g.17574998C>A
Protein change:
L158I
Molecular consequence:
  • NM_001277269.2:c.508C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.472C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005040306Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 14, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040306.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: OTOG c.508C>A (p.Leu170Ile) results in a conservative amino acid change located in the von Willebrand factor, type D domain (IPR001846) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.508C>A in individuals affected with Deafness, Autosomal Recessive 18b and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jul 7, 2024