ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) (rs200686732)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505790 SCV000251679 uncertain significance not specified 2017-02-27 criteria provided, single submitter clinical testing The A3T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A3T variant is observed in 19/2782 (0.68%) alleles from individuals of European background in the ExAC dataset (Lek et al., 2016). The A3T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000901776 SCV001046164 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Mendelics RCV000986628 SCV001135672 uncertain significance Leigh syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137778 SCV001297755 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV001137778 SCV001458059 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-10-28 no assertion criteria provided clinical testing

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