ClinVar Miner

Submissions for variant NM_003049.4(SLC10A1):c.559G>C (p.Val187Leu)

gnomAD frequency: 0.00003  dbSNP: rs199771927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729270 SCV000856917 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507289 SCV002806957 uncertain significance Hypercholanemia, familial, 2 2022-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026970 SCV003873565 uncertain significance not specified 2023-03-06 criteria provided, single submitter clinical testing The c.559G>C (p.V187L) alteration is located in exon 2 (coding exon 2) of the SLC10A1 gene. This alteration results from a G to C substitution at nucleotide position 559, causing the valine (V) at amino acid position 187 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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