ClinVar Miner

Submissions for variant NM_005612.5(REST):c.416A>G (p.Asp139Gly)

gnomAD frequency: 0.00002  dbSNP: rs112115500
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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 RCV001952255 SCV002193474 uncertain significance not provided 2024-04-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 139 of the REST protein (p.Asp139Gly). This variant is present in population databases (rs112115500, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with REST-related conditions. ClinVar contains an entry for this variant (Variation ID: 1418725). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004043631 SCV004939250 uncertain significance Inborn genetic diseases 2023-12-31 criteria provided, single submitter clinical testing The c.416A>G (p.D139G) alteration is located in exon 2 (coding exon 1) of the REST gene. This alteration results from a A to G substitution at nucleotide position 416, causing the aspartic acid (D) at amino acid position 139 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005031887 SCV005658316 uncertain significance Autosomal dominant nonsyndromic hearing loss 27; Wilms tumor 6; Fibromatosis, gingival, 5 2024-01-10 criteria provided, single submitter clinical testing

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