ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)

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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 RCV003026346 SCV003323246 uncertain significance Mitochondrial trifunctional protein deficiency 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 401 of the HADHB protein (p.Asn401Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HADHB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003045305 SCV003661385 uncertain significance Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing The c.1203C>A (p.N401K) alteration is located in exon 14 (coding exon 13) of the HADHB gene. This alteration results from a C to A substitution at nucleotide position 1203, causing the asparagine (N) at amino acid position 401 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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