ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser)

gnomAD frequency: 0.00010  dbSNP: rs373908553
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199058 SCV000251650 likely benign not specified 2014-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002515406 SCV003260407 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 418 of the LRPPRC protein (p.Asn418Ser). This variant is present in population databases (rs373908553, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 214585). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRPPRC protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002517226 SCV003700280 uncertain significance Inborn genetic diseases 2022-11-14 criteria provided, single submitter clinical testing The c.1253A>G (p.N418S) alteration is located in exon 10 (coding exon 10) of the LRPPRC gene. This alteration results from a A to G substitution at nucleotide position 1253, causing the asparagine (N) at amino acid position 418 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003485559 SCV004236276 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2023-12-20 criteria provided, single submitter clinical testing

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