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NM_020533.3(MCOLN1):c.98C>T (p.Pro33Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 13, 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:
RCV003109981.3

Allele description [Variation Report for NM_020533.3(MCOLN1):c.98C>T (p.Pro33Leu)]

NM_020533.3(MCOLN1):c.98C>T (p.Pro33Leu)

Gene:
MCOLN1:mucolipin TRP cation channel 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_020533.3(MCOLN1):c.98C>T (p.Pro33Leu)
HGVS:
  • NC_000019.10:g.7525027C>T
  • NG_015806.1:g.7418C>T
  • NM_020533.3:c.98C>TMANE SELECT
  • NP_065394.1:p.Pro33Leu
  • NC_000019.9:g.7589913C>T
  • NM_020533.2:c.98C>T
Protein change:
P33L
Molecular consequence:
  • NM_020533.3:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003761804GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 13, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003761804.2

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 11, 2023