ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.620A>T (p.Tyr207Phe)

gnomAD frequency: 0.00022  dbSNP: rs146293544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824007 SCV000964882 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 207 of the LRPPRC protein (p.Tyr207Phe). This variant is present in population databases (rs146293544, gnomAD 0.09%). 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: 665678). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV000824007 SCV002765207 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001830824 SCV002076576 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-11-11 no assertion criteria provided clinical testing

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