ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser)

dbSNP: rs80356503
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064985 SCV001229923 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1691 of the FLNB protein (p.Gly1691Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant Larsen syndrome or atelosteogenesis III (PMID: 14991055, 16648377, 16752402, 27048506). In at least one individual the variant was observed to be de novo. This variant is also known as p.Gly1722Ser. ClinVar contains an entry for this variant (Variation ID: 6406). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNB protein function with a negative predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000030663 SCV000026971 pathogenic Larsen syndrome 2007-02-01 no assertion criteria provided literature only
GeneReviews RCV000030663 SCV000040872 not provided Larsen syndrome no assertion provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001064985 SCV001951181 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001064985 SCV001966721 pathogenic not provided no assertion criteria provided clinical testing

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