ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)

gnomAD frequency: 0.00002  dbSNP: rs1557177797
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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 RCV001947187 SCV002132908 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324258 SCV002610923 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-10-05 criteria provided, single submitter clinical testing The p.S1084F variant (also known as c.3251C>T), located in coding exon 21 of the FLNA gene, results from a C to T substitution at nucleotide position 3251. The serine at codon 1084 is replaced by phenylalanine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.002% (3/174410) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.01% (2/18946) of South Asian alleles. 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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