ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala)

gnomAD frequency: 0.00001  dbSNP: rs763390035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795475 SCV000934939 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-12-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HSD17B4 protein function. ClinVar contains an entry for this variant (Variation ID: 642085). This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. This variant is present in population databases (rs763390035, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 567 of the HSD17B4 protein (p.Val567Ala).
Ambry Genetics RCV002537001 SCV003720107 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.1700T>C (p.V567A) alteration is located in exon 20 (coding exon 20) of the HSD17B4 gene. This alteration results from a T to C substitution at nucleotide position 1700, causing the valine (V) at amino acid position 567 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274462 SCV001458672 uncertain significance Bifunctional peroxisomal enzyme deficiency 2020-09-16 no assertion criteria provided clinical testing

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