ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) (rs150022314)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755295 SCV000604116 uncertain significance not provided 2017-08-27 criteria provided, single submitter clinical testing The LPIN2 c.1735T>C;p.Ser579Pro variant has not been described in the literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 234339) and in the dbSNP variant database (rs150022314) with an allele frequency of 0.2558 in Europeans in the Exome Variant Server and 0.4204 in the Exome Aggregation Consortium including 3 homozygotes. Additionally, computational programs (PolyPhen2, SIFT) predict this variant to have no effect on protein function. However, this is not sufficient evidence to assume the variant is benign. Taken together, the clinical significance of this variant is uncertain. If the variant is pathogenic, this individual would be a carrier of Majeed syndrome (OMIM#605519).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000755295 SCV000892501 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000271785 SCV000744776 likely benign Majeed syndrome 2016-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000222234 SCV000279011 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000271785 SCV000743505 likely benign Majeed syndrome 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271785 SCV000408476 uncertain significance Majeed syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000271785 SCV000645164 benign Majeed syndrome 2017-11-19 criteria provided, single submitter clinical testing

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