ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)

gnomAD frequency: 0.00001  dbSNP: rs1212781668
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049688 SCV001213754 uncertain significance Hyperprolinemia type 2 2023-10-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 6 of the ALDH4A1 protein (p.Pro6Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALDH4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 846391). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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