ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.495G>A (p.Lys165=)

gnomAD frequency: 0.00211  dbSNP: rs142474407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539149 SCV000652312 benign Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 2024-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591650 SCV000703957 benign not specified 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000591650 SCV000723241 likely benign not specified 2017-09-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002350358 SCV002645742 likely benign Cardiovascular phenotype 2019-03-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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