ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1042C>G (p.Pro348Ala)

gnomAD frequency: 0.00005  dbSNP: rs782643025
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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 RCV002311167 SCV000320340 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-09-15 criteria provided, single submitter clinical testing The p.P348A variant (also known as c.1042C>G), located in coding exon 6 of the FLNA gene, results from a C to G substitution at nucleotide position 1042. The proline at codon 348 is replaced by alanine, an amino acid with some highly similar properties. Based on data from ExAC, the G allele has an overall frequency of approximately 0.01% (5/86552). The highest observed frequency was 0.08% (5/6607) of East Asian alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed September 14, 2015]). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6193 samples (12386 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001859466 SCV002228468 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-10-17 criteria provided, single submitter clinical testing

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