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NM_002332.3(LRP1):c.1856C>T (p.Thr619Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 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:
RCV004413005.1

Allele description [Variation Report for NM_002332.3(LRP1):c.1856C>T (p.Thr619Met)]

NM_002332.3(LRP1):c.1856C>T (p.Thr619Met)

Gene:
LRP1:LDL receptor related protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_002332.3(LRP1):c.1856C>T (p.Thr619Met)
HGVS:
  • NC_000012.12:g.57159882C>T
  • NG_016444.1:g.36384C>T
  • NG_016444.2:g.36401C>T
  • NM_002332.3:c.1856C>TMANE SELECT
  • NP_002323.2:p.Thr619Met
  • NC_000012.11:g.57553665C>T
  • NM_002332.2:c.1856C>T
Protein change:
T619M
Molecular consequence:
  • NM_002332.3:c.1856C>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
SCV004897089Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 9, 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, SCV004897089.1

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

Description

The c.1856C>T (p.T619M) alteration is located in exon 12 (coding exon 12) of the LRP1 gene. This alteration results from a C to T substitution at nucleotide position 1856, causing the threonine (T) at amino acid position 619 to be replaced by a methionine (M). 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