ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)

gnomAD frequency: 0.00016  dbSNP: rs183607306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801008 SCV000940756 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2022-07-14 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. 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. ClinVar contains an entry for this variant (Variation ID: 646672). This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. This variant is present in population databases (rs183607306, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 189 of the ABCD4 protein (p.Ser189Gly).
Ambry Genetics RCV003353030 SCV004052223 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.565A>G (p.S189G) alteration is located in exon 6 (coding exon 6) of the ABCD4 gene. This alteration results from a A to G substitution at nucleotide position 565, causing the serine (S) at amino acid position 189 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526030 SCV005039597 uncertain significance not specified 2024-03-11 criteria provided, single submitter clinical testing

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