ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1168+4A>G

gnomAD frequency: 0.00009  dbSNP: rs368340969
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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 RCV000808208 SCV000948304 uncertain significance Majeed syndrome 2020-03-11 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the LPIN2 gene. It does not directly change the encoded amino acid sequence of the LPIN2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs368340969, ExAC 0.03%). This variant has not been reported in the literature in individuals with LPIN2-related disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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