NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) AND Microcephaly, short stature, and polymicrogyria with or without seizures

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000679856.2

Allele description [Variation Report for NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)]

NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)

Gene:
RTTN:rotatin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q22.2
Genomic location:
Preferred name:
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)
HGVS:
  • NC_000018.10:g.70006461C>T
  • NG_033104.1:g.204266G>A
  • NM_001318520.2:c.3709G>A
  • NM_173630.4:c.6445G>AMANE SELECT
  • NP_001305449.1:p.Ala1237Thr
  • NP_775901.3:p.Ala2149Thr
  • NC_000018.9:g.67673697C>T
  • NM_173630.3:c.6445G>A
Protein change:
A1237T
Links:
dbSNP: rs34989098
NCBI 1000 Genomes Browser:
rs34989098
Molecular consequence:
  • NM_001318520.2:c.3709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173630.4:c.6445G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP)
Synonyms:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA
Identifiers:
MONDO: MONDO:0013907; MedGen: C3553831; OMIM: 614833

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807206Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Sep 1, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]
PMID:
25326635
PMCID:
PMC4326249

Details of each submission

From Baylor Genetics, SCV000807206.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000508680.4)
PubMed (2)

Description

Possible pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 3-year-old female with microcephaly, craniosynostosis, dysmorphisms, fused labia, absence seizures, failure to thrive. However, allele frequency is high, and homozygotes have been found in controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided
(GTR000508680.4)
not providednot providednot providednot provided

Last Updated: Oct 6, 2021

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