ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.1620C>T (p.Ile540=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401062 SCV002705428 likely benign Cardiovascular phenotype 2020-04-04 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.
PreventionGenetics, part of Exact Sciences RCV003408270 SCV004109298 uncertain significance LMF1-related disorder 2023-06-07 criteria provided, single submitter clinical testing The LMF1 c.1540C>T variant is predicted to result in the amino acid substitution p.Arg514Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-904616-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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