ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1663T>C (p.Phe555Leu)

gnomAD frequency: 0.00001  dbSNP: rs779779379
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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) RCV000729906 SCV000857604 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678806 SCV005168242 uncertain significance Inborn genetic diseases 2024-04-08 criteria provided, single submitter clinical testing The c.1663T>C (p.F555L) alteration is located in exon 14 (coding exon 13) of the TCIRG1 gene. This alteration results from a T to C substitution at nucleotide position 1663, causing the phenylalanine (F) at amino acid position 555 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279345 SCV001466433 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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