ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)

gnomAD frequency: 0.00086  dbSNP: rs149005052
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272056 SCV000344189 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087141 SCV001014238 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000272056 SCV001474862 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000272056 SCV002002111 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV004537601 SCV004114100 uncertain significance SYNE1-related disorder 2023-07-27 criteria provided, single submitter clinical testing The SYNE1 c.9551A>G variant is predicted to result in the amino acid substitution p.Asp3184Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.28% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152690727-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004021289 SCV004960363 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.9551A>G (p.D3184G) alteration is located in exon 60 (coding exon 59) of the SYNE1 gene. This alteration results from a A to G substitution at nucleotide position 9551, causing the aspartic acid (D) at amino acid position 3184 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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