ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)

dbSNP: rs1410531577
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714893 SCV000845643 uncertain significance Myofibrillar myopathy 5 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714894 SCV000845644 uncertain significance Distal myopathy with posterior leg and anterior hand involvement 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000808416 SCV000948525 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-02-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FLNC protein function. ClinVar contains an entry for this variant (Variation ID: 587641). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 302 of the FLNC protein (p.Thr302Ala).
CeGaT Center for Human Genetics Tuebingen RCV000998905 SCV001155250 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing FLNC: PM2
Revvity Omics, Revvity RCV000998905 SCV003833064 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165949 SCV003913400 uncertain significance Cardiovascular phenotype 2022-12-23 criteria provided, single submitter clinical testing The p.T302A variant (also known as c.904A>G), located in coding exon 5 of the FLNC gene, results from an A to G substitution at nucleotide position 904. The threonine at codon 302 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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