ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131101 SCV003810678 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2019-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003131101 SCV004294999 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004634223 SCV005128525 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.3260C>G (p.T1087S) alteration is located in exon 17 (coding exon 17) of the HCFC1 gene. This alteration results from a C to G substitution at nucleotide position 3260, causing the threonine (T) at amino acid position 1087 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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