ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.223G>A (p.Asp75Asn)

gnomAD frequency: 0.00001  dbSNP: rs750411797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373428 SCV001570143 uncertain significance Majeed syndrome 2022-03-19 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: 1063578). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. This variant is present in population databases (rs750411797, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 75 of the LPIN2 protein (p.Asp75Asn).

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