ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.2617C>A (p.Pro873Thr)

gnomAD frequency: 0.00001  dbSNP: rs757315664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792772 SCV000932092 uncertain significance Majeed syndrome 2019-04-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with LPIN2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 873 of the LPIN2 protein (p.Pro873Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine.
GeneDx RCV003226977 SCV003923382 uncertain significance not provided 2023-05-05 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

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