ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.484G>A (p.Ala162Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004398075 SCV004887203 uncertain significance not specified 2024-03-11 criteria provided, single submitter clinical testing The c.484G>A (p.A162T) alteration is located in exon 6 (coding exon 6) of the ALDH4A1 gene. This alteration results from a G to A substitution at nucleotide position 484, causing the alanine (A) at amino acid position 162 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004565965 SCV005049889 uncertain significance Hyperprolinemia type 2 2023-12-18 criteria provided, single submitter clinical testing

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