ClinVar Miner

Submissions for variant NM_145059.3(FCSK):c.1862G>A (p.Arg621His)

gnomAD frequency: 0.00067  dbSNP: rs200371638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002943463 SCV003276951 likely benign not provided 2024-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004068095 SCV004867921 uncertain significance not specified 2023-09-26 criteria provided, single submitter clinical testing The c.1862G>A (p.R621H) alteration is located in exon 16 (coding exon 15) of the FUK gene. This alteration results from a G to A substitution at nucleotide position 1862, causing the arginine (R) at amino acid position 621 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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