ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.3958C>A (p.Leu1320Ile)

gnomAD frequency: 0.00005  dbSNP: rs551446826
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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 RCV002110955 SCV002390352 likely benign not provided 2024-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004976236 SCV005579864 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.3958C>A (p.L1320I) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a C to A substitution at nucleotide position 3958, causing the leucine (L) at amino acid position 1320 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004752153 SCV005348888 uncertain significance FAT4-related disorder 2024-07-29 no assertion criteria provided clinical testing The FAT4 c.3958C>A variant is predicted to result in the amino acid substitution p.Leu1320Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of South Asian descent in gnomAD, which may be too common to be causative. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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