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

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Dec 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000763845.3

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)

Name:
Senior-Loken syndrome 7 (SLSN7)
Identifiers:
MONDO: MONDO:0013326; MedGen: C3150877; Orphanet: 3156; OMIM: 613615
Name:
Bardet-Biedl syndrome 16 (BBS16)
Identifiers:
MONDO: MONDO:0014444; MedGen: C3889474; Orphanet: 110; OMIM: 615993

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000894774Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001016056Invitaecriteria provided, single submitter
Likely benign
(Dec 3, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000894774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001016056.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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