NM_001365715.1(LRCH3):c.1781C>T (p.Ala594Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 2024
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:
RCV004410720.1

Allele description [Variation Report for NM_001365715.1(LRCH3):c.1781C>T (p.Ala594Val)]

NM_001365715.1(LRCH3):c.1781C>T (p.Ala594Val)

Gene:
LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_001365715.1(LRCH3):c.1781C>T (p.Ala594Val)
HGVS:
  • NC_000003.12:g.197866127C>T
  • NM_001363887.1:c.1781C>T
  • NM_001365715.1:c.1781C>TMANE SELECT
  • NM_001365716.1:c.1765+656C>T
  • NM_001365717.1:c.1709C>T
  • NM_001365718.1:c.1765+656C>T
  • NM_032773.4:c.1781C>T
  • NP_001350816.1:p.Ala594Val
  • NP_001352644.1:p.Ala594Val
  • NP_001352646.1:p.Ala570Val
  • NP_116162.1:p.Ala594Val
  • NC_000003.11:g.197592998C>T
  • NM_032773.2:c.1781C>T
Protein change:
A570V
Molecular consequence:
  • NM_001365716.1:c.1765+656C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365718.1:c.1765+656C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363887.1:c.1781C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365715.1:c.1781C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365717.1:c.1709C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032773.4:c.1781C>T - 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
SCV004897382Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 16, 2024) 		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, SCV004897382.1

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

Description

The c.1781C>T (p.A594V) alteration is located in exon 17 (coding exon 17) of the LRCH3 gene. This alteration results from a C to T substitution at nucleotide position 1781, causing the alanine (A) at amino acid position 594 to be replaced by a valine (V). 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 7, 2024