ClinVar Miner

Submissions for variant NM_014241.4(HACD1):c.412G>A (p.Val138Met)

gnomAD frequency: 0.00013  dbSNP: rs141646017
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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 RCV001914848 SCV002147232 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 138 of the HACD1 protein (p.Val138Met). This variant is present in population databases (rs141646017, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HACD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1379404). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002552287 SCV003718311 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.412G>A (p.V138M) alteration is located in exon 4 (coding exon 4) of the HACD1 gene. This alteration results from a G to A substitution at nucleotide position 412, causing the valine (V) at amino acid position 138 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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