ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser)

gnomAD frequency: 0.00014  dbSNP: rs373880647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693210 SCV000821070 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-07-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2437 of the SYNE2 protein (p.Asn2437Ser). This variant is present in population databases (rs373880647, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 571942). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Illumina Laboratory Services, Illumina RCV000693210 SCV001268059 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV004025145 SCV003745606 uncertain significance not specified 2022-07-26 criteria provided, single submitter clinical testing The c.7310A>G (p.N2437S) alteration is located in exon 46 (coding exon 45) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 7310, causing the asparagine (N) at amino acid position 2437 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000693210 SCV003818773 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-04-11 criteria provided, single submitter clinical testing

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