ClinVar Miner

Submissions for variant NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) (rs782168634)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250726 SCV000320319 uncertain significance Cardiovascular phenotype 2015-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224666 SCV000281506 likely benign not provided 2016-04-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000224666 SCV000590446 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing The P480L variant of uncertain significance in the FLNA gene has not been published as pathogenic or been reported as benign to our knowledge. This variant was observed in 11/42,492 (0.03%)Non-Finnish European alleles, including 4 hemizygous males, in the Exome Aggregation Consortium data-set and at least 1 other presumably healthy hemizygous male undergoing genetic testing at GeneDx (Lek et al., 2016). The P480L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ insome properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000640774 SCV000762373 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-10-12 criteria provided, single submitter clinical testing

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