ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His)

gnomAD frequency: 0.00008  dbSNP: rs371839875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313349 SCV000739049 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-12-02 criteria provided, single submitter clinical testing The p.Y775H variant (also known as c.2323T>C), located in coding exon 15 of the FLNA gene, results from a T to C substitution at nucleotide position 2323. The tyrosine at codon 775 is replaced by histidine, an amino acid with similar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele was absent out of 2355 total male alleles studied. In the ESP, the C allele has an overall frequency of less than 0.01% (1/7660) total female alleles studied. Based on data from ExAC, the C allele has an overall frequency less than 0.01% (2/45853) total alleles studied, with one hemizygote. 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.
Invitae RCV000704079 SCV000833013 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-31 criteria provided, single submitter clinical testing

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