NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) AND Joubert syndrome 14

Clinical significance:Uncertain significance (Last evaluated: Oct 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)]

NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)

TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)
  • NC_000002.12:g.201633376A>C
  • NG_032049.1:g.15154T>G
  • NM_001044385.3:c.330T>GMANE SELECT
  • NM_152388.4:c.306T>G
  • NP_001037850.1:p.Asn110Lys
  • NP_689601.2:p.Asn102Lys
  • NC_000002.11:g.202498099A>C
  • NM_001044385.2:c.330T>G
Protein change:
dbSNP: rs1553660992
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001044385.3:c.330T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152388.4:c.306T>G - missense variant - [Sequence Ontology: SO:0001583]


Joubert syndrome 14 (JBTS14)
MONDO: MONDO:0013745; MedGen: C3280766; OMIM: 614424

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001539946Invitaecriteria provided, single submitter
Uncertain significance
(Oct 7, 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



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]

Details of each submission

From Invitae, SCV001539946.1

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


This sequence change replaces asparagine with lysine at codon 110 of the TMEM237 protein (p.Asn110Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMEM237-related conditions. ClinVar contains an entry for this variant (Variation ID: 451176). 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: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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

Last Updated: Oct 7, 2021

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