ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)

gnomAD frequency: 0.00001  dbSNP: rs781878646
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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) RCV000724800 SCV000230580 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000198176 SCV000250400 likely benign not specified 2017-11-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724800 SCV001473299 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing The FLNA c.6989C>G; p.Ser2330Cys variant (rs781878646), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 197460). This variant is only observed on four alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 2330 is highly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ser2330Cys variant is uncertain at this time.
Invitae RCV001338631 SCV001532317 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362916 SCV002664434 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-12 criteria provided, single submitter clinical testing The p.S2330C variant (also known as c.6989C>G), located in coding exon 41 of the FLNA gene, results from a C to G substitution at nucleotide position 6989. The serine at codon 2330 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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