ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.1204G>A (p.Val402Met)

gnomAD frequency: 0.00002  dbSNP: rs189637126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004651720 SCV005147209 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.1204G>A (p.V402M) alteration is located in exon 8 (coding exon 7) of the PLIN1 gene. This alteration results from a G to A substitution at nucleotide position 1204, causing the valine (V) at amino acid position 402 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001795647 SCV002034997 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795647 SCV002036261 likely benign not provided no assertion criteria provided clinical testing

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