ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)

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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 RCV002359890 SCV002647994 uncertain significance Cardiovascular phenotype 2024-06-10 criteria provided, single submitter clinical testing The c.5800G>A (p.V1934M) alteration is located in exon 43 (coding exon 42) of the ABCA1 gene. This alteration results from a G to A substitution at nucleotide position 5800, causing the valine (V) at amino acid position 1934 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003718525 SCV004519750 likely benign not provided 2023-08-28 criteria provided, single submitter clinical testing

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