ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.1939-2del (rs745529823)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778531 SCV000914814 uncertain significance Majeed syndrome 2018-12-12 criteria provided, single submitter clinical testing The LPIN2 c.1939-2delA variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The variant is reported at a frequency of 0.001320 in the Ashkenazi Jewish population of the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Majeed syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000778531 SCV001019688 likely benign Majeed syndrome 2019-12-31 criteria provided, single submitter clinical testing

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