ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.17177T>C (p.Val5726Ala)

gnomAD frequency: 0.00003  dbSNP: rs944538946
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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 RCV000695555 SCV000824063 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-06-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SYNE2-related disease. This sequence change replaces valine with alanine at codon 5726 of the SYNE2 protein (p.Val5726Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.
Revvity Omics, Revvity RCV000695555 SCV003818204 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004867692 SCV005510947 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing The c.17177T>C (p.V5726A) alteration is located in exon 94 (coding exon 93) of the SYNE2 gene. This alteration results from a T to C substitution at nucleotide position 17177, causing the valine (V) at amino acid position 5726 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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