ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.389A>G (p.Asn130Ser)

gnomAD frequency: 0.00001  dbSNP: rs201885016
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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 RCV000536746 SCV000633731 uncertain significance Hereditary hemochromatosis 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 130 of the HFE protein (p.Asn130Ser). This variant is present in population databases (rs201885016, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of HFE-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 461191). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt HFE protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV003258860 SCV003946952 uncertain significance Inborn genetic diseases 2023-05-15 criteria provided, single submitter clinical testing The c.389A>G (p.N130S) alteration is located in exon 3 (coding exon 3) of the HFE gene. This alteration results from a A to G substitution at nucleotide position 389, causing the asparagine (N) at amino acid position 130 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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