ClinVar Miner

Submissions for variant NM_015865.7(SLC14A1):c.61C>A (p.Gln21Lys)

gnomAD frequency: 0.00001  dbSNP: rs765284140
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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 RCV004291497 SCV003946660 uncertain significance not specified 2023-03-20 criteria provided, single submitter clinical testing The c.61C>A (p.Q21K) alteration is located in exon 3 (coding exon 1) of the SLC14A1 gene. This alteration results from a C to A substitution at nucleotide position 61, causing the glutamine (Q) at amino acid position 21 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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