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NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 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:
RCV004035496.1

Allele description [Variation Report for NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)]

NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)

Gene:
GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.2
Genomic location:
Preferred name:
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)
HGVS:
  • NC_000009.12:g.37429816C>T
  • NG_008135.1:g.12107C>T
  • NM_012203.2:c.578C>TMANE SELECT
  • NP_036335.1:p.Ala193Val
  • NC_000009.11:g.37429813C>T
  • NM_012203.1:c.578C>T
Protein change:
A193V
Links:
dbSNP: rs771231175
NCBI 1000 Genomes Browser:
rs771231175
Molecular consequence:
  • NM_012203.2:c.578C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrolithiasis/nephrocalcinosis
Identifiers:
MedGen: CN580796

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003717832Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 24, 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, SCV003717832.2

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

Description

The c.578C>T (p.A193V) alteration is located in exon 6 (coding exon 6) of the GRHPR gene. This alteration results from a C to T substitution at nucleotide position 578, causing the alanine (A) at amino acid position 193 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: Nov 3, 2024