ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=)

gnomAD frequency: 0.00002  dbSNP: rs782551055
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198128 SCV000250328 benign not specified 2014-08-14 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.
Invitae RCV000640796 SCV000762395 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298255 SCV003994212 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-06-20 criteria provided, single submitter clinical testing The c.2205C>T variant (also known as p.Y735Y), located in coding exon 14 of the FLNA gene, results from a C to T substitution at nucleotide position 2205. This nucleotide substitution does not change the tyrosine at codon 735. Based on data from gnomAD, the T allele has an overall frequency of 0.0064% (13/203434) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.0107% (3/28003) of Latino alleles. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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