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NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2023
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:
RCV004719120.1

Allele description [Variation Report for NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)]

NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)

Gene:
RTTN:rotatin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q22.2
Genomic location:
Preferred name:
NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)
HGVS:
  • NC_000018.10:g.70134474T>C
  • NG_033104.1:g.76253A>G
  • NM_001318520.2:c.217A>G
  • NM_173630.4:c.2953A>GMANE SELECT
  • NP_001305449.1:p.Arg73Gly
  • NP_775901.3:p.Arg985Gly
  • NC_000018.9:g.67801710T>C
  • NM_173630.3:c.2953A>G
Protein change:
R73G; ARG985GLY
Links:
OMIM: 610436.0007
Molecular consequence:
  • NM_001318520.2:c.217A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173630.4:c.2953A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005325849GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jul 5, 2023)
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, SCV005325849.1

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

Description

Published RT-PCR analysis shows that this variant results in impaired splicing (Grandone et al., 2016, Vandervore et al., 2018); In silico analysis supports a deleterious effect on splicing; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34402213, 26940245, 30879067, 30121372)

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

Last Updated: Oct 8, 2024