ClinVar Miner

Submissions for variant NM_145199.3(LIPT1):c.469G>A (p.Asp157Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004634014 SCV005130499 uncertain significance Inborn genetic diseases 2024-04-24 criteria provided, single submitter clinical testing The c.469G>A (p.D157N) alteration is located in exon 3 (coding exon 1) of the LIPT1 gene. This alteration results from a G to A substitution at nucleotide position 469, causing the aspartic acid (D) at amino acid position 157 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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