ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.3673G>A (p.Ala1225Thr)

gnomAD frequency: 0.00009  dbSNP: rs371610564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771160 SCV002001488 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001771160 SCV003032679 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346688 SCV004052380 uncertain significance Inborn genetic diseases 2023-08-19 criteria provided, single submitter clinical testing The c.3673G>A (p.A1225T) alteration is located in exon 21 (coding exon 21) of the FLNB gene. This alteration results from a G to A substitution at nucleotide position 3673, causing the alanine (A) at amino acid position 1225 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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