ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)

gnomAD frequency: 0.00009  dbSNP: rs141112437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401476 SCV001603302 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552731 SCV003687180 uncertain significance Inborn genetic diseases 2022-09-30 criteria provided, single submitter clinical testing The c.1412T>C (p.F471S) alteration is located in exon 9 (coding exon 9) of the ALDH3A2 gene. This alteration results from a T to C substitution at nucleotide position 1412, causing the phenylalanine (F) at amino acid position 471 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001401476 SCV004142449 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing ALDH3A2: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV001401476 SCV005412684 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing PM2_moderate

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