ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu)

gnomAD frequency: 0.00005  dbSNP: rs371830740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419413 SCV000529845 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing Has not been previously reported in peer-reviewed literature as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV000419413 SCV001150534 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Invitae RCV001214184 SCV001385855 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374687 SCV002692142 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-06-10 criteria provided, single submitter clinical testing The p.P323L variant (also known as c.968C>T), located in coding exon 5 of the FLNA gene, results from a C to T substitution at nucleotide position 968. The proline at codon 323 is replaced by leucine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.003454% (7/202635) total alleles studied, with 2 hemizygotes observed. The highest observed frequency was 0.005467% (5/91458) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction 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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