ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln)

gnomAD frequency: 0.00002  dbSNP: rs749727482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002477915 SCV002774953 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001733659 SCV003313695 uncertain significance Majeed syndrome 2022-02-03 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. ClinVar contains an entry for this variant (Variation ID: 1301710). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. This variant is present in population databases (rs749727482, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 280 of the LPIN2 protein (p.Arg280Gln).
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733659 SCV001984412 uncertain significance Majeed syndrome 2020-08-13 flagged submission clinical testing

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