ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.5650C>T (p.Leu1884Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003009211 SCV003298435 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-12-15 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: "Probably Damaging"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1884 of the SYNE2 protein (p.Leu1884Phe).
PreventionGenetics, part of Exact Sciences RCV003404001 SCV004105468 uncertain significance SYNE2-related disorder 2022-10-04 criteria provided, single submitter clinical testing The SYNE2 c.5650C>T variant is predicted to result in the amino acid substitution p.Leu1884Phe. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004673758 SCV005165885 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing The c.5650C>T (p.L1884F) alteration is located in exon 39 (coding exon 38) of the SYNE2 gene. This alteration results from a C to T substitution at nucleotide position 5650, causing the leucine (L) at amino acid position 1884 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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