ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.569C>T (p.Pro190Leu)

gnomAD frequency: 0.00003  dbSNP: rs757819366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341871 SCV001535766 uncertain significance Hyperprolinemia type 2 2022-02-24 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: 1038543). This variant has not been reported in the literature in individuals affected with ALDH4A1-related conditions. This variant is present in population databases (rs757819366, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 190 of the ALDH4A1 protein (p.Pro190Leu).

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