ClinVar Miner

Submissions for variant NM_213606.4(SLC16A12):c.410G>A (p.Ser137Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004670133 SCV005169489 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing The c.410G>A (p.S137N) alteration is located in exon 5 (coding exon 3) of the SLC16A12 gene. This alteration results from a G to A substitution at nucleotide position 410, causing the serine (S) at amino acid position 137 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040740 SCV005681142 uncertain significance Juvenile cataract-microcornea-renal glucosuria syndrome 2024-04-26 criteria provided, single submitter clinical testing

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