ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.500A>G (p.Asp167Gly)

dbSNP: rs2106946911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378164 SCV001575675 likely pathogenic not provided 2020-05-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 167 of the FLNB protein (p.Asp167Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Larsen syndrome (PMID: 22190451). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Asp167 amino acid residue in FLNB. Other variant(s) that disrupt this residue have been observed in individuals with FLNB-related conditions (PMID: 22190451), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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