ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr)

gnomAD frequency: 0.00004  dbSNP: rs200611889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000277083 SCV000340757 uncertain significance not provided 2016-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494862 SCV002797150 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000277083 SCV002820745 uncertain significance not provided 2022-07-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002518973 SCV003709134 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.3277G>A (p.A1093T) alteration is located in exon 31 (coding exon 31) of the LRPPRC gene. This alteration results from a G to A substitution at nucleotide position 3277, causing the alanine (A) at amino acid position 1093 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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