ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.289G>A (p.Glu97Lys)

dbSNP: rs2077534512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003273778 SCV003983650 uncertain significance Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing The c.289G>A (p.E97K) alteration is located in exon 4 (coding exon 3) of the LPIN2 gene. This alteration results from a G to A substitution at nucleotide position 289, causing the glutamic acid (E) at amino acid position 97 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004784136 SCV005396093 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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