ClinVar Miner

Submissions for variant NM_014241.4(HACD1):c.143C>T (p.Thr48Ile)

gnomAD frequency: 0.00006  dbSNP: rs864309602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202909 SCV000258070 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing
Invitae RCV000912446 SCV001057554 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515503 SCV003674389 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.143C>T (p.T48I) alteration is located in exon 1 (coding exon 1) of the HACD1 gene. This alteration results from a C to T substitution at nucleotide position 143, causing the threonine (T) at amino acid position 48 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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