NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln) AND Microcephaly, short stature, and polymicrogyria with or without seizures

Clinical significance:Uncertain significance (Last evaluated: Feb 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001333062.1

Allele description [Variation Report for NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln)]

NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln)

Gene:
RTTN:rotatin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q22.2
Genomic location:
Preferred name:
NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln)
HGVS:
  • NC_000018.10:g.70017415A>T
  • NG_033104.1:g.193312T>A
  • NM_001318520.2:c.3677T>A
  • NM_173630.4:c.6413T>AMANE SELECT
  • NP_001305449.1:p.Leu1226Gln
  • NP_775901.3:p.Leu2138Gln
  • NC_000018.9:g.67684651A>T
  • NM_173630.3:c.6413T>A
Protein change:
L1226Q
Molecular consequence:
  • NM_001318520.2:c.3677T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173630.4:c.6413T>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
SCV001525547Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Feb 13, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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

Details of each submission

From Baylor Genetics, SCV001525547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 28, 2021

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