ClinVar Miner

Submissions for variant NM_080546.5(SLC44A1):c.1775T>C (p.Met592Thr)

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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 RCV005276856 SCV005944405 uncertain significance not specified 2025-02-19 criteria provided, single submitter clinical testing The c.1775T>C (p.M592T) alteration is located in exon 14 (coding exon 14) of the SLC44A1 gene. This alteration results from a T to C substitution at nucleotide position 1775, causing the methionine (M) at amino acid position 592 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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