ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.1876G>A (p.Val626Met)

gnomAD frequency: 0.00074  dbSNP: rs147307965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002544196 SCV002009763 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544196 SCV003283401 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544197 SCV003682169 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.1876G>A (p.V626M) alteration is located in exon 12 (coding exon 12) of the LONP1 gene. This alteration results from a G to A substitution at nucleotide position 1876, causing the valine (V) at amino acid position 626 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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