ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)

gnomAD frequency: 0.00002  dbSNP: rs1400230946
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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 RCV002233869 SCV000934496 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822202 SCV005586247 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-10-29 criteria provided, single submitter clinical testing The p.R1635C variant (also known as c.4903C>T), located in coding exon 28 of the FLNA gene, results from a C to T substitution at nucleotide position 4903. The arginine at codon 1635 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (1/201658) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was <0.01% (1/14515) of East Asian alleles. Based on the available evidence, the clinical significance of this variant remains unclear.

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