ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)

gnomAD frequency: 0.00004  dbSNP: rs782555986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520883 SCV000617014 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FLNA gene. The T1705M variant has not been published as pathogenic or been reported as benign to our knowledge. The T1705M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the T1705M variant was observed in the hemizygous state in three individuals in the Exome Aggregation Consortium (ExAc).
Invitae RCV001084701 SCV001011476 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527565 SCV003748957 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.5114C>T (p.T1705M) alteration is located in exon 30 (coding exon 29) of the FLNA gene. This alteration results from a C to T substitution at nucleotide position 5114, causing the threonine (T) at amino acid position 1705 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV000520883 SCV003832716 uncertain significance not provided 2021-08-11 criteria provided, single submitter clinical testing

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