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NM_198551.4(MIA3):c.4633C>T (p.Arg1545Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 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:
RCV003195267.2

Allele description [Variation Report for NM_198551.4(MIA3):c.4633C>T (p.Arg1545Trp)]

NM_198551.4(MIA3):c.4633C>T (p.Arg1545Trp)

Gene:
MIA3:MIA SH3 domain ER export factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_198551.4(MIA3):c.4633C>T (p.Arg1545Trp)
HGVS:
  • NC_000001.11:g.222658747C>T
  • NM_001300867.2:c.1267C>T
  • NM_001324062.2:c.4633C>T
  • NM_001324063.2:c.4456C>T
  • NM_001324064.2:c.4141C>T
  • NM_001324065.2:c.1267C>T
  • NM_198551.4:c.4633C>TMANE SELECT
  • NP_001287796.1:p.Arg423Trp
  • NP_001310991.1:p.Arg1545Trp
  • NP_001310992.1:p.Arg1486Trp
  • NP_001310993.1:p.Arg1381Trp
  • NP_001310994.1:p.Arg423Trp
  • NP_940953.2:p.Arg1545Trp
  • NC_000001.10:g.222832089C>T
  • NM_198551.2:c.4633C>T
Protein change:
R1381W
Molecular consequence:
  • NM_001300867.2:c.1267C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324062.2:c.4633C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324063.2:c.4456C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324064.2:c.4141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324065.2:c.1267C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198551.4:c.4633C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003907576Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003907576.2

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

Description

The c.4633C>T (p.R1545W) alteration is located in exon 19 (coding exon 19) of the MIA3 gene. This alteration results from a C to T substitution at nucleotide position 4633, causing the arginine (R) at amino acid position 1545 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024