ClinVar Miner

Submissions for variant NM_001146334.2(NACAD):c.311C>T (p.Ala104Val)

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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 RCV004183429 SCV003685238 uncertain significance not specified 2021-08-13 criteria provided, single submitter clinical testing The c.311C>T (p.A104V) alteration is located in exon 2 (coding exon 2) of the NACAD gene. This alteration results from a C to T substitution at nucleotide position 311, causing the alanine (A) at amino acid position 104 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003427629 SCV004156876 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing NACAD: BP4, BS2

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