U.S. flag

An official website of the United States government

NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) AND Saldino-Mainzer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 2022
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:
RCV001366836.6

Allele description [Variation Report for NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)]

NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)

Genes:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
LOC105371046:uncharacterized LOC105371046 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)
HGVS:
  • NC_000016.10:g.1584324C>G
  • NG_032783.1:g.32785G>C
  • NM_014714.4:c.1252G>CMANE SELECT
  • NP_055529.2:p.Ala418Pro
  • NC_000016.9:g.1634325C>G
  • NM_014714.3:c.1252G>C
Protein change:
A418P
Links:
dbSNP: rs770890983
NCBI 1000 Genomes Browser:
rs770890983
Molecular consequence:
  • NM_014714.4:c.1252G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Saldino-Mainzer syndrome (SRTD9)
Synonyms:
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Conorenal syndrome; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009964; MedGen: C1849437; Orphanet: 140969; OMIM: 266920

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001563153Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 15, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R.

Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28.

PubMed [citation]
PMID:
26216056
PMCID:
PMC4565766

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001563153.3

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

Description

This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 418 of the IFT140 protein (p.Ala418Pro). This variant is present in population databases (rs770890983, gnomAD 0.003%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 26216056). ClinVar contains an entry for this variant (Variation ID: 866335). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024