ClinVar Miner

Submissions for variant NM_001349206.2(LPIN1):c.434C>T (p.Thr145Met)

gnomAD frequency: 0.00010  dbSNP: rs201744351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328647 SCV001519811 uncertain significance Myoglobinuria, acute recurrent, autosomal recessive 2019-04-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546269 SCV003271268 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 145 of the LPIN1 protein (p.Thr145Met). This variant is present in population databases (rs201744351, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with LPIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1027770). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LPIN1 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV001328647 SCV005650762 likely benign Myoglobinuria, acute recurrent, autosomal recessive 2024-04-02 criteria provided, single submitter clinical testing

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