ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)

gnomAD frequency: 0.00046  dbSNP: rs181731943
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409930 SCV001611967 likely benign not provided 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001409930 SCV001787320 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing Identified as a heterozygous variant in patients with hypertriglyceridemia in the literature; however, detailed clinical information was not provided and a second LMF1 variant was not reported in most cases (PMID: 22135386, 32041611, 33111339, 35460704, 36613909); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27884173, 33111339, 32041611, 22135386, 31619059, 35460704, 36613909)
Ambry Genetics RCV002395924 SCV002698897 likely benign Cardiovascular phenotype 2021-06-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
New York Genome Center RCV002468241 SCV002764357 uncertain significance Lipase deficiency, combined 2023-04-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001409930 SCV001798167 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001409930 SCV001920742 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001409930 SCV001973323 uncertain significance not provided no assertion criteria provided clinical testing

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