ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.12421C>G (p.Leu4141Val)

gnomAD frequency: 0.00066  dbSNP: rs375994752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002285889 SCV002575634 uncertain significance not provided 2022-03-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002285889 SCV004275819 likely benign not provided 2023-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973401 SCV005586642 uncertain significance Inborn genetic diseases 2024-11-08 criteria provided, single submitter clinical testing The c.12421C>G (p.L4141V) alteration is located in exon 25 (coding exon 24) of the FAT1 gene. This alteration results from a C to G substitution at nucleotide position 12421, causing the leucine (L) at amino acid position 4141 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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