ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.-18G>T

gnomAD frequency: 0.00001  dbSNP: rs772899120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976796 SCV002261114 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 49 of the AMPD2 protein (p.Ala49Ser). This variant is present in population databases (rs772899120, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1479471). 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 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 RCV002579523 SCV003729182 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.145G>T (p.A49S) alteration is located in exon 1 (coding exon 1) of the AMPD2 gene. This alteration results from a G to T substitution at nucleotide position 145, causing the alanine (A) at amino acid position 49 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003348708 SCV004050200 uncertain significance Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348709 SCV004050201 uncertain significance Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing

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