ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141102 SCV003827822 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2019-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004676179 SCV005177865 uncertain significance Inborn genetic diseases 2024-04-06 criteria provided, single submitter clinical testing The c.666A>T (p.E222D) alteration is located in exon 5 (coding exon 5) of the TOR1AIP1 gene. This alteration results from a A to T substitution at nucleotide position 666, causing the glutamic acid (E) at amino acid position 222 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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