ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)

gnomAD frequency: 0.00041  dbSNP: rs147302249
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000922943 SCV001068394 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140442 SCV001300699 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000922943 SCV001860607 benign not provided 2020-07-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29152527, 22494076)
Fulgent Genetics, Fulgent Genetics RCV001140442 SCV002799466 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2022-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903018 SCV004721948 likely benign LRPPRC-related condition 2020-05-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001140442 SCV001452972 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-06-16 no assertion criteria provided clinical testing

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