ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)

gnomAD frequency: 0.00004  dbSNP: rs373277796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808287 SCV002058952 uncertain significance Cockayne syndrome type 2 2022-01-03 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000042, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.806, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV002482341 SCV002796888 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 2022-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541471 SCV003287033 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163947 SCV003872097 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.2212A>C (p.I738L) alteration is located in exon 11 (coding exon 10) of the ERCC6 gene. This alteration results from a A to C substitution at nucleotide position 2212, causing the isoleucine (I) at amino acid position 738 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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