ClinVar Miner

Submissions for variant NM_003492.3(TMEM187):c.466G>A (p.Ala156Thr)

gnomAD frequency: 0.00014  dbSNP: rs138932866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898446 SCV001042654 likely benign not provided 2018-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028485 SCV003570987 uncertain significance not specified 2021-10-12 criteria provided, single submitter clinical testing The c.466G>A (p.A156T) alteration is located in exon 2 (coding exon 1) of the TMEM187 gene. This alteration results from a G to A substitution at nucleotide position 466, causing the alanine (A) at amino acid position 156 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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