ClinVar Miner

Submissions for variant NM_006998.4(SCGN):c.430G>A (p.Ala144Thr)

dbSNP: rs138238239
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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 RCV004200504 SCV003711012 uncertain significance not specified 2022-11-18 criteria provided, single submitter clinical testing The c.430G>A (p.A144T) alteration is located in exon 6 (coding exon 6) of the SCGN gene. This alteration results from a G to A substitution at nucleotide position 430, causing the alanine (A) at amino acid position 144 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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