ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.246G>A (p.Leu82=)

gnomAD frequency: 0.00008  dbSNP: rs188844900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945352 SCV001091353 benign Ehlers-Danlos syndrome, kyphoscoliotic type, 2 2024-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454170 SCV002736220 likely benign Cardiovascular phenotype 2020-12-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056700 SCV005726593 benign not specified 2024-11-19 criteria provided, single submitter clinical testing Variant summary: FKBP14 c.246G>A alters a non-conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00016 in 251354 control chromosomes, predominantly at a frequency of 0.0022 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 2-fold of the estimated maximal expected allele frequency for a pathogenic variant in FKBP14 causing Ehlers-Danlos syndrome, kyphoscoliotic type, 2 phenotype (0.0011). To our knowledge, no occurrence of c.246G>A in individuals affected with Ehlers-Danlos syndrome, kyphoscoliotic type, 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 766790). Based on the evidence outlined above, the variant was classified as benign.

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