ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.2342_2346del (p.Lys781fs)

dbSNP: rs762442011
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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 RCV001381032 SCV001579284 pathogenic Majeed syndrome 2022-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069224). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. This variant is present in population databases (rs762442011, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Lys781Thrfs*7) in the LPIN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LPIN2 are known to be pathogenic (PMID: 15994876, 23087183).
PreventionGenetics, part of Exact Sciences RCV004731143 SCV005335783 likely pathogenic LPIN2-related disorder 2024-09-24 no assertion criteria provided clinical testing The LPIN2 c.2342_2346del5 variant is predicted to result in a frameshift and premature protein termination (p.Lys781Thrfs*7). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. Frameshift variants in LPIN2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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