ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5933C>T (p.Thr1978Met)

dbSNP: rs1603359437
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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 RCV001419325 SCV001621575 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160679 SCV003857241 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-17 criteria provided, single submitter clinical testing The p.T1970M variant (also known as c.5909C>T), located in coding exon 35 of the FLNA gene, results from a C to T substitution at nucleotide position 5909. The threonine at codon 1970 is replaced by methionine, an amino acid with similar properties. 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.

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