ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.2864C>T (p.Thr955Ile)

gnomAD frequency: 0.00001  dbSNP: rs1831268828
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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 RCV004386453 SCV004872750 uncertain significance not specified 2023-11-17 criteria provided, single submitter clinical testing The c.2954C>T (p.T985I) alteration is located in exon 20 (coding exon 20) of the ABCA2 gene. This alteration results from a C to T substitution at nucleotide position 2954, causing the threonine (T) at amino acid position 985 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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