ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)

gnomAD frequency: 0.00010  dbSNP: rs781881872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065255 SCV001230207 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020369 SCV003739797 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-13 criteria provided, single submitter clinical testing The c.7111T>C (p.Y2371H) alteration is located in exon 43 (coding exon 42) of the FLNA gene. This alteration results from a T to C substitution at nucleotide position 7111, causing the tyrosine (Y) at amino acid position 2371 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330567 SCV004039059 uncertain significance not specified 2023-08-11 criteria provided, single submitter clinical testing

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