ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.479C>T (p.Ser160Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468501 SCV002764433 uncertain significance Lipase deficiency, combined 2021-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896202 SCV004709068 uncertain significance LMF1-related disorder 2023-12-12 criteria provided, single submitter clinical testing The LMF1 c.479C>T variant is predicted to result in the amino acid substitution p.Ser160Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004067568 SCV005028613 uncertain significance Cardiovascular phenotype 2023-11-08 criteria provided, single submitter clinical testing The p.S160F variant (also known as c.479C>T), located in coding exon 2 of the LMF1 gene, results from a C to T substitution at nucleotide position 479. The serine at codon 160 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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