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NM_001102575.2(SNX18):c.124G>C (p.Val42Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 25, 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:
RCV004189928.1

Allele description [Variation Report for NM_001102575.2(SNX18):c.124G>C (p.Val42Leu)]

NM_001102575.2(SNX18):c.124G>C (p.Val42Leu)

Gene:
SNX18:sorting nexin 18 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q11.2
Genomic location:
Preferred name:
NM_001102575.2(SNX18):c.124G>C (p.Val42Leu)
HGVS:
  • NC_000005.10:g.54518076G>C
  • NM_001102575.2:c.124G>CMANE SELECT
  • NM_001145427.2:c.124G>C
  • NM_052870.4:c.124G>C
  • NP_001096045.1:p.Val42Leu
  • NP_001138899.1:p.Val42Leu
  • NP_443102.2:p.Val42Leu
  • NC_000005.9:g.53813906G>C
  • NM_052870.2:c.124G>C
Protein change:
V42L
Molecular consequence:
  • NM_001102575.2:c.124G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145427.2:c.124G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052870.4:c.124G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003689250Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 25, 2022) 		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, SCV003689250.2

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

Description

The c.124G>C (p.V42L) alteration is located in exon 1 (coding exon 1) of the SNX18 gene. This alteration results from a G to C substitution at nucleotide position 124, causing the valine (V) at amino acid position 42 to be replaced by a leucine (L). 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: Nov 10, 2024