ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu)

gnomAD frequency: 0.00002  dbSNP: rs770051774
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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 RCV001358810 SCV001554662 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-03-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs770051774, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 102 of the AMPD2 protein (p.Pro102Leu). 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: 1050854). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV002548529 SCV003623817 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.305C>T (p.P102L) alteration is located in exon 2 (coding exon 2) of the AMPD2 gene. This alteration results from a C to T substitution at nucleotide position 305, causing the proline (P) at amino acid position 102 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003346510 SCV004050209 uncertain significance Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346511 SCV004050210 uncertain significance Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing

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