ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1199A>G (p.Asn400Ser)

gnomAD frequency: 0.00012  dbSNP: rs374161061
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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 RCV002122143 SCV002392345 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045868 SCV004882644 uncertain significance Inborn genetic diseases 2022-08-31 criteria provided, single submitter clinical testing The c.1199A>G (p.N400S) alteration is located in exon 13 (coding exon 13) of the HSD17B4 gene. This alteration results from a A to G substitution at nucleotide position 1199, causing the asparagine (N) at amino acid position 400 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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