ClinVar Miner

Submissions for variant NM_001004356.3(FGFRL1):c.980G>A (p.Arg327His)

gnomAD frequency: 0.00034  dbSNP: rs147980100
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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 RCV002187398 SCV002345883 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045539 SCV003689571 uncertain significance not specified 2021-08-10 criteria provided, single submitter clinical testing The c.980G>A (p.R327H) alteration is located in exon 6 (coding exon 5) of the FGFRL1 gene. This alteration results from a G to A substitution at nucleotide position 980, causing the arginine (R) at amino acid position 327 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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