ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1852T>C (p.Tyr618His)

gnomAD frequency: 0.00003  dbSNP: rs559532964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002193778 SCV002490629 likely benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2024-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047111 SCV003881875 uncertain significance not specified 2023-03-01 criteria provided, single submitter clinical testing The c.1792T>C (p.Y598H) alteration is located in exon 12 (coding exon 12) of the LMNB2 gene. This alteration results from a T to C substitution at nucleotide position 1792, causing the tyrosine (Y) at amino acid position 598 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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