ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu)

dbSNP: rs2143203306
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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 RCV001914108 SCV002193000 uncertain significance Majeed syndrome 2021-10-11 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 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"). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 4 of the LPIN2 protein (p.Val4Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine.
GenomeConnect, ClinGen RCV001914108 SCV002818427 not provided Majeed syndrome no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 10-12-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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