ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) (rs759052246)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490392 SCV000267390 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825952 SCV000967437 uncertain significance not specified 2018-09-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu1377Ly sfsX10 variant in LRPPRC has not been previously reported in the literature but has been reported in ClinVar (Variation ID #225408). This variant has been ident ified in 0.19% (36/18864) of East Asian chromosomes by the Genome Aggregation Da tabase (gnomAD, http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 1377 and leads to a premature termination codon 10 amino acids downstre am. This termination codon occurs within the last exon and is, therefore, likely to escape nonsense mediated decay (NMD) and result in a truncated protein. In s ummary, while there is some suspicion for a pathogenic role, the clinical signif icance of the p.Glu1377LysfsX10 variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PVS1_Moderate.
Baylor Genetics RCV000490392 SCV001162953 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type criteria provided, single submitter clinical testing

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