ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu)

gnomAD frequency: 0.00009  dbSNP: rs138707300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492887 SCV000581950 uncertain significance not provided 2024-08-28 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002524023 SCV003261716 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 429391). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs138707300, gnomAD 0.02%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 6465 of the SYNE1 protein (p.Phe6465Leu).
Revvity Omics, Revvity RCV000492887 SCV003822798 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing

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