ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.3989C>T (p.Ala1330Val)

gnomAD frequency: 0.00005  dbSNP: rs762901807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002013888 SCV002299410 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-01-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1330 of the SYNE2 protein (p.Ala1330Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SYNE2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004046244 SCV003706909 uncertain significance not specified 2022-09-29 criteria provided, single submitter clinical testing The c.3989C>T (p.A1330V) alteration is located in exon 30 (coding exon 29) of the SYNE2 gene. This alteration results from a C to T substitution at nucleotide position 3989, causing the alanine (A) at amino acid position 1330 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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