ClinVar Miner

Submissions for variant NM_001093.4(ACACB):c.306C>A (p.Asn102Lys)

gnomAD frequency: 0.00024  dbSNP: rs201767549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463509 SCV001667455 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004867731 SCV005514146 uncertain significance not specified 2024-08-20 criteria provided, single submitter clinical testing The c.306C>A (p.N102K) alteration is located in exon 1 (coding exon 1) of the ACACB gene. This alteration results from a C to A substitution at nucleotide position 306, causing the asparagine (N) at amino acid position 102 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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