ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.181G>A (p.Val61Ile)

gnomAD frequency: 0.00039  dbSNP: rs151156420
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732904 SCV000860902 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001070216 SCV001235433 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 61 of the SYNE1 protein (p.Val61Ile). This variant is present in population databases (rs151156420, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596927). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The isoleucine 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.
GeneDx RCV000732904 SCV001826894 uncertain significance not provided 2024-12-18 criteria provided, single submitter clinical testing Reported previously as a heterozygous variant in a patient with peripheral cone dystrophy who also harbored multiple heterozygous variants in other genes (PMID: 30116628); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30116628)
Ambry Genetics RCV002535299 SCV003625278 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.181G>A (p.V61I) alteration is located in exon 4 (coding exon 3) of the SYNE1 gene. This alteration results from a G to A substitution at nucleotide position 181, causing the valine (V) at amino acid position 61 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000732904 SCV003825193 uncertain significance not provided 2020-09-14 criteria provided, single submitter clinical testing

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