ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His)

gnomAD frequency: 0.00001  dbSNP: rs774862180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839128 SCV002099045 uncertain significance Larsen syndrome 2021-03-22 criteria provided, single submitter clinical testing The c.5059T>C (p.Tyr1687His) variant in exon 29 of 46 of FLNB has not been reported in affected individuals in the available literature. This variant is present in gnomADv3 at a low frequency (1/152238 heterozygote, allele frequency=6.56e-6), suggesting it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Benign (REVELscore: 0.2189) and Tolerated (SIFT score: 0.215). Given the current evidences regarding its pathogenicity, the c.5059T>C (p.Tyr1687His) variant identified in the FLNB gene is a Variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002542824 SCV003023910 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980741 SCV005588215 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.5059T>C (p.Y1687H) alteration is located in exon 29 (coding exon 29) of the FLNB gene. This alteration results from a T to C substitution at nucleotide position 5059, causing the tyrosine (Y) at amino acid position 1687 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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