NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 10, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000522463.3

Allele description [Variation Report for NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)]

NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)

Gene:
SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
HGVS:
  • NC_000001.11:g.243293116C>T
  • NG_027811.1:g.42112C>T
  • NM_001350246.2:c.-541C>T
  • NM_001350247.2:c.-429C>T
  • NM_001350248.2:c.572C>T
  • NM_001350249.2:c.278C>T
  • NM_001350251.2:c.-802C>T
  • NM_006642.5:c.572C>TMANE SELECT
  • NP_001337177.1:p.Thr191Ile
  • NP_001337178.1:p.Thr93Ile
  • NP_006633.1:p.Thr191Ile
  • NC_000001.10:g.243456418C>T
  • NM_006642.3:c.572C>T
Protein change:
T191I
Links:
dbSNP: rs150070966
NCBI 1000 Genomes Browser:
rs150070966
Molecular consequence:
  • NM_001350246.2:c.-541C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350247.2:c.-429C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350251.2:c.-802C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350248.2:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350249.2:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006642.5:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000618631GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 10, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000618631.2

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

Description

The T191I variant in the SDCCAG8 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T191I variant is observed in 21/10,386 (0.2%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The T191I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret T191I as a variant of uncertain significance.

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

Last Updated: Nov 27, 2021

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