ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe)

gnomAD frequency: 0.00003  dbSNP: rs749192098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824185 SCV000965071 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 500 of the LRSAM1 protein (p.Leu500Phe). This variant is present in population databases (rs749192098, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 665817). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000824185 SCV001519723 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2020-01-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001843555 SCV002102703 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002538197 SCV003752688 uncertain significance Inborn genetic diseases 2022-11-19 criteria provided, single submitter clinical testing The c.1498C>T (p.L500F) alteration is located in exon 19 (coding exon 18) of the LRSAM1 gene. This alteration results from a C to T substitution at nucleotide position 1498, causing the leucine (L) at amino acid position 500 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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