ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.553G>A (p.Val185Met)

gnomAD frequency: 0.00003  dbSNP: rs148620026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217499 SCV001389341 uncertain significance Majeed syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 185 of the LPIN2 protein (p.Val185Met). This variant is present in population databases (rs148620026, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 946602). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264226 SCV002543587 uncertain significance Autoinflammatory syndrome 2019-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001217499 SCV004236262 uncertain significance Majeed syndrome 2023-03-29 criteria provided, single submitter clinical testing

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