ClinVar Miner

Submissions for variant NM_080546.5(SLC44A1):c.275T>C (p.Val92Ala)

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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 RCV004870583 SCV005502825 uncertain significance not specified 2024-10-29 criteria provided, single submitter clinical testing The c.275T>C (p.V92A) alteration is located in exon 4 (coding exon 4) of the SLC44A1 gene. This alteration results from a T to C substitution at nucleotide position 275, causing the valine (V) at amino acid position 92 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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