ClinVar Miner

Submissions for variant NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003138619 SCV003824542 uncertain significance not provided 2021-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003410276 SCV004107773 uncertain significance SPECC1L-related disorder 2023-06-09 criteria provided, single submitter clinical testing The SPECC1L c.362C>T variant is predicted to result in the amino acid substitution p.Ser121Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-24717310-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003138619 SCV004272597 likely benign not provided 2024-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246061 SCV004955420 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.362C>T (p.S121F) alteration is located in exon 5 (coding exon 3) of the SPECC1L gene. This alteration results from a C to T substitution at nucleotide position 362, causing the serine (S) at amino acid position 121 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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